chr17:7673802:C>T Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,120-7,577,120 View the variant detail on this assembly version.
hg38 chr17:7,673,802-7,673,802

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.818G>A NP_001119585.1:p.Arg273His
NM_001276695.1:c.818G>A NP_001263624.1:p.Arg273His
NM_000546.5:c.818G>A NP_000537.3:p.Arg273His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 8
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 191170 OMIM
HGNC 11998 HGNC
Ensembl ENSG00000141510 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv56956929 TogoVar
COSMIC COSM3356963 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2018/01/11 esophageal cancer (adenocarcinoma) somatic MGS000017
(TMGS000052)
Kohei Miyazono Tokyo University
Pathogenic 2018/04/12 colon cancer somatic MGS000017
(TMGS000052)
Kohei Miyazono Tokyo University
Pathogenic 2018/04/12 colon cancer (dissemination) somatic MGS000017
(TMGS000052)
Kohei Miyazono Tokyo University
Pathogenic 2018/04/12 colon cancer (metastasis) somatic MGS000017
(TMGS000052)
Kohei Miyazono Tokyo University
Pathogenic 2018/04/26 Ovarian cancer somatic MGS000017
(TMGS000052)
Kohei Miyazono Tokyo University
Pathogenic li-fraumeni syndrome germline MGS000001
(TMGS000178)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-05-11 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 unknown germline Detail
Pathogenic 1993-01-01 no assertion criteria provided Thyroid gland undifferentiated (anaplastic) carcinoma somatic Detail
Pathogenic Likely pathogenic 2023-02-14 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Pathogenic criteria provided, single submitter Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Adrenal cortex carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided ovarian serous cystadenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Pathogenic 2022-06-06 criteria provided, single submitter lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Carcinoma of esophagus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Small cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided medulloblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided acute myeloid leukemia somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Pathogenic 2019-08-28 reviewed by expert panel Li-Fraumeni syndrome unknown germline Detail
Pathogenic Likely pathogenic 2021-03-19 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2020-09-01 no assertion criteria provided rhabdomyosarcoma germline Detail
Pathogenic no assertion criteria provided unknown Detail
Pathogenic 2021-03-19 no assertion criteria provided colorectal cancer,multiple myeloma somatic Detail
Pathogenic 2021-03-19 no assertion criteria provided colorectal cancer,multiple myeloma somatic Detail
Pathogenic 2021-03-19 no assertion criteria provided Familial cancer of breast somatic Detail
Pathogenic 2022-03-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer unknown Detail
Pathogenic 2022-03-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer unknown Detail
Pathogenic 2022-03-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer unknown Detail
Pathogenic 2022-03-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer unknown Detail
Pathogenic 2022-03-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer unknown Detail
Pathogenic 2022-03-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer unknown Detail
Pathogenic 2022-03-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer unknown Detail
Pathogenic 2022-03-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer unknown Detail
Pathogenic 2022-03-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer unknown Detail
Pathogenic 2022-03-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer unknown Detail
Pathogenic 2022-03-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer unknown Detail
Pathogenic 2022-03-14 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 7,Adrenocortical carcinoma, hereditary,hepatocellular carcinoma,Familial cancer of breast,bone osteosarcoma,Bone marrow failure syndrome 5,Carcinoma of pancreas,Nasopharyngeal carcinoma,Glioma susceptibility 1,Li-Fraumeni syndrome 1,choroid plexus papilloma,colorectal cancer unknown Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2023-07-19 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
Likely pathogenic 2023-01-26 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
breast cancer B Prognostic Supports Poor Outcome Somatic 3 16489069 Detail
breast cancer B Prognostic Supports Poor Outcome Somatic 3 9569050 Detail
cancer AMGMDS3 D Predictive Supports Resistance Somatic 4 25730903 Detail
osteosarcoma Methotrexate,Doxorubicin D Predictive Supports Resistance Somatic 3 17363498 Detail
acute myeloid leukemia D Functional Does Not Support Neomorphic Unknown 4 31395785 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 Li-Fraumeni syndrome 1 The consensus coding sequences of human breast and colorectal cancers. UNIPROT 16959974 Detail
0.441 Li-Fraumeni syndrome 1 NA CLINVAR Detail
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.007 Lichen Sclerosus et Atrophicus In matched samples, immunohistochemistry evaluation of p53 protein expression re... BeFree 17554370 Detail
0.067 colon carcinoma To elucidate whether and how mutant p53 acquires its gain-of-function, mutant p5... BeFree 18701504 Detail
<0.001 Glioma Overexpression of the paradigmatic p53 mutants p53(R175H), p53(R248W) and p53(R2... BeFree 18202704 Detail
<0.001 Anaplastic thyroid carcinoma Adoptive overexpression of wild-type p53, but not of its inactive (R248W and R27... BeFree 15899946 Detail
0.059 Malignant tumor of colon To elucidate whether and how mutant p53 acquires its gain-of-function, mutant p5... BeFree 18701504 Detail
0.382 osteosarcoma Some of the genetic changes identified were in tumor suppressor genes previously... BeFree 22006429 Detail
0.134 osteosarcoma Some of the genetic changes identified were in tumor suppressor genes previously... BeFree 22006429 Detail
0.010 Osteosarcoma of bone Some of the genetic changes identified were in tumor suppressor genes previously... BeFree 22006429 Detail
0.031 Osteosarcoma of bone Some of the genetic changes identified were in tumor suppressor genes previously... BeFree 22006429 Detail
0.080 Carcinogenesis This study has investigated the impact of three specific dominant-negative p53 m... BeFree 16723121 Detail
0.132 glioblastoma The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mu... BeFree 24399651 Detail
0.012 rhabdomyosarcoma Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the age... BeFree 21484931 Detail
0.003 Malignant neoplasm of lung Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... BeFree 10226602 Detail
<0.001 Non-small cell lung carcinoma The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was up... BeFree 21621504 Detail
0.031 Osteosarcoma of bone On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Sa... BeFree 17363498 Detail
0.121 endometrial carcinoma To investigate the DN effect on tumor migration and invasion, we generated cells... BeFree 17636407 Detail
0.382 osteosarcoma On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Sa... BeFree 17363498 Detail
0.219 Non-small cell lung carcinoma The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was up... BeFree 21621504 Detail
0.261 adrenocortical carcinoma Although codon 273 is a known hotspot region for p53 mutation, the patient's mut... BeFree 16096528 Detail
0.005 Malignant neoplasm of lung Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... BeFree 10226602 Detail
0.369 Li-Fraumeni syndrome Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the age... BeFree 21484931 Detail
0.160 Malignant neoplasm of lung Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... BeFree 10226602 Detail
0.004 Carcinoma of lung Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... BeFree 10226602 Detail
0.002 Carcinoma of lung Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... BeFree 10226602 Detail
0.011 Malignant neoplasm of lung Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... BeFree 10226602 Detail
0.128 Anaplastic thyroid carcinoma NA CLINVAR Detail
0.003 Carcinoma of lung Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... BeFree 10226602 Detail
0.017 Malignant neoplasm of endometrium To investigate the DN effect on tumor migration and invasion, we generated cells... BeFree 17636407 Detail
0.323 Neoplasm Metastasis Taken together, these results suggest that transdominance of R273H mutant over w... BeFree 17636407 Detail
0.017 uterine corpus cancer To investigate the DN effect on tumor migration and invasion, we generated cells... BeFree 17636407 Detail
0.080 Carcinoma of lung Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 resp... BeFree 10226602 Detail
0.261 Skin Neoplasms Here, we show, using conditional mouse technology, that epithelium-specific hete... BeFree 17510390 Detail
Annotation

Annotations

DescrptionSourceLinks
Breast cancer patients who harbor R273H mutation have worse overall survival than those with wild ty... CIViC Evidence Detail
In breast cancer patients harboring TP53 mutation, mutations in DNA contact regions such as R273 are... CIViC Evidence Detail
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1... CIViC Evidence Detail
Several preclinical studies were testing drug resistance mechanisms of TP53-R273H variant. Saos-2 ce... CIViC Evidence Detail
The R273H mutation was used to create isogenic AML cell lines using MOLM13 and K526 lines. R273H/- c... CIViC Evidence Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Thyroid gland undifferentiated (anaplastic) carcinoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND not provided ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Squamous cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Gastric adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Prostate adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Uterine carcinosarcoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Neoplasm of brain ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Adrenal cortex carcinoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Multiple myeloma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Malignant melanoma of skin ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Brainstem glioma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Carcinoma of esophagus ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Glioblastoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Small cell lung carcinoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Medulloblastoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Acute myeloid leukemia ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Neoplasm ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Neoplasm of the large intestine ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Rhabdomyosarcoma ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Malignant tumor of breast ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Familial cancer of breast ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND multiple conditions ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Gastric cancer ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Adrenocortical carcinoma, hereditary ClinVar Detail
NM_000546.6(TP53):c.818G>A (p.Arg273His) AND Breast and/or ovarian cancer ClinVar Detail
The consensus coding sequences of human breast and colorectal cancers. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In matched samples, immunohistochemistry evaluation of p53 protein expression revealed the presence ... DisGeNET Detail
To elucidate whether and how mutant p53 acquires its gain-of-function, mutant p53 is inducibly knock... DisGeNET Detail
Overexpression of the paradigmatic p53 mutants p53(R175H), p53(R248W) and p53(R273H) in the p53 null... DisGeNET Detail
Adoptive overexpression of wild-type p53, but not of its inactive (R248W and R273H) mutants, strongl... DisGeNET Detail
To elucidate whether and how mutant p53 acquires its gain-of-function, mutant p53 is inducibly knock... DisGeNET Detail
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter... DisGeNET Detail
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter... DisGeNET Detail
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter... DisGeNET Detail
Some of the genetic changes identified were in tumor suppressor genes previously identified as alter... DisGeNET Detail
This study has investigated the impact of three specific dominant-negative p53 mutants (F134L, M237L... DisGeNET Detail
The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mutant glioblastoma. DisGeNET Detail
Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 2... DisGeNET Detail
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... DisGeNET Detail
The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was upregulated in a non-s... DisGeNET Detail
On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Saos-2 cells down-regu... DisGeNET Detail
To investigate the DN effect on tumor migration and invasion, we generated cells that stably co-expr... DisGeNET Detail
On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Saos-2 cells down-regu... DisGeNET Detail
The protein, translocator of the inner mitochondrial membrane 50 (Tim50), was upregulated in a non-s... DisGeNET Detail
Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has no... DisGeNET Detail
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... DisGeNET Detail
Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 2... DisGeNET Detail
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... DisGeNET Detail
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... DisGeNET Detail
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... DisGeNET Detail
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... DisGeNET Detail
NA DisGeNET Detail
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... DisGeNET Detail
To investigate the DN effect on tumor migration and invasion, we generated cells that stably co-expr... DisGeNET Detail
Taken together, these results suggest that transdominance of R273H mutant over wt p53 rather than a ... DisGeNET Detail
To investigate the DN effect on tumor migration and invasion, we generated cells that stably co-expr... DisGeNET Detail
Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53R... DisGeNET Detail
Here, we show, using conditional mouse technology, that epithelium-specific heterozygous expression ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs28934576 dbSNP
Genome
hg38
Position
chr17:7,673,802-7,673,802
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8072
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
114148
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.628166941164103E-5
Variant (CIViC) (CIViC Variant)
R273H
Transcript 1 (CIViC Variant)
ENST00000269305.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/122
Summary (CIViC Variant)
While loss-of-function events in TP53 are very common in cancer, the R273 variants seem not only to result in loss of tumor-suppression, but also act as a gain-of-function mutation that can promote tumorigenesis in mouse models. This mutant is also more responsive to treatment with doxorubicin than its wild-type counterparts. While the prognostic impact of individual TP53 mutations is influenced by the cohort being studied, it has been suggested that the R273 mutants have been correlated with worse overall survival in breast cancer patients when compared to wild-type.
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