chr1:114713909:G>T Detail (hg38) (NRAS)

Information

Genome

Assembly Position
hg19 chr1:115,256,530-115,256,530 View the variant detail on this assembly version.
hg38 chr1:114,713,909-114,713,909

HGVS

Type Transcript Protein
RefSeq NM_002524.4:c.181C>A NP_002515.1:p.Gln61Lys
Ensemble ENST00000369535.5:c.181C>A ENST00000369535.5:p.Gln61Lys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 164790 OMIM
HGNC 7989 HGNC
Ensembl ENSG00000213281 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM580 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other somatic MGS000073
(TMGS000145) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-05-21 criteria provided, single submitter large congenital melanocytic nevus germline somatic Detail
Pathogenic 2013-09-01 no assertion criteria provided Neurocutaneous melanocytosis 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 acute myeloid leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Papillary renal cell carcinoma type 1 somatic Detail
not provided 2016-03-10 no assertion provided neuroblastoma somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Nasopharyngeal neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided 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 lung adenocarcinoma somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided melanoma 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 Malignant neoplasm of body of uterus 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 gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided ovarian serous cystadenocarcinoma somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
drug response 2017-11-27 no assertion criteria provided somatic Detail
Likely pathogenic 2015-02-19 no assertion criteria provided Vascular Tumors Including Pyogenic Granuloma somatic Detail
Uncertain significance 2018-01-29 criteria provided, single submitter RASopathy unknown Detail
Pathogenic 2018-09-01 criteria provided, single submitter not provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
neuroblastoma Binimetinib,Everolimus D Predictive Supports Sensitivity/Response Somatic 3 26821351 Detail
skin melanoma Vemurafenib D Predictive Supports Resistance Somatic 2 22194965 Detail
skin melanoma Selumetinib D Predictive Supports Sensitivity/Response Somatic 2 22194965 Detail
colorectal cancer Selumetinib,Dactolisib D Predictive Supports Sensitivity/Response Somatic 3 22392911 Detail
lung non-small cell carcinoma Trametinib,Selumetinib D Predictive Supports Sensitivity/Response Somatic 2 23515407 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 melanoma Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (... BeFree 25189354 Detail
0.061 melanoma These results suggest a crucial role of keratinocytic RXRα to suppress formation... BeFree 25189354 Detail
<0.001 melanoma Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (... BeFree 25189354 Detail
0.009 Neoplasm Metastasis Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 n... BeFree 14695143 Detail
0.002 Neoplasm Metastasis Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 ... BeFree 15737846 Detail
0.236 melanoma We have evaluated five real-time ARMS assays: BRAF 1799T&gt;A, [this includes V6... BeFree 20925915 Detail
0.009 Neoplasm Metastasis Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 ... BeFree 15737846 Detail
0.002 Neoplasm Metastasis Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 n... BeFree 14695143 Detail
0.240 Neurocutaneous melanosis NA CLINVAR Detail
0.360 GIANT PIGMENTED HAIRY NEVUS NA CLINVAR Detail
0.001 Colorectal cancer metastatic We report two cases of mCRC with a Q61K NRAS mutation that had a favorable respo... BeFree 23400451 Detail
<0.001 sarcoma We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1... BeFree 23382236 Detail
0.236 melanoma In this study, we performed an integrative analysis of DNA methylation, gene exp... BeFree 25537510 Detail
0.009 colorectal cancer Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. BeFree 23400451 Detail
0.007 colorectal carcinoma Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. BeFree 23400451 Detail
0.003 sarcoma We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1... BeFree 23382236 Detail
<0.001 sarcoma We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1... BeFree 23382236 Detail
<0.001 Stage IV Skin Melanoma Carcinogen treatment in mouse selectively expressing activated N-Ras Q61K in mel... BeFree 22128787 Detail
0.236 melanoma In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute t... BeFree 18668139 Detail
0.025 melanoma In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute t... BeFree 18668139 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 mycosis fungoides One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
0.120 B-Cell Lymphomas Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... BeFree 22575864 Detail
<0.001 diffuse large B-cell lymphoma Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... BeFree 22575864 Detail
<0.001 diffuse large B-cell lymphoma Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... BeFree 22575864 Detail
0.001 B-Cell Lymphomas Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... BeFree 22575864 Detail
0.236 melanoma Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48%... BeFree 23855428 Detail
Annotation

Annotations

DescrptionSourceLinks
In-vitro study in 5 neuroblastoma cell lines (2 with NRAS Q61K mutation). The combination of mTOR an... CIViC Evidence Detail
Preclinical study in melanoma cell lines. NRAS Q61K, in addition to the BRAF V600E mutation was asso... CIViC Evidence Detail
Preclinical study in melanoma cell lines. NRAS Q61K, in addition to the BRAF V600E mutation was asso... CIViC Evidence Detail
In 28 out of 40 (70%) metastatic colorectal cancer tumors harboring mutations in KRAS, NRAS, BRAF, o... CIViC Evidence Detail
Of the 4,562 patients with lung cancers, 30 showed NRAS mutations, which corresponded to 9 different... CIViC Evidence Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Large congenital melanocytic nevus ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Neurocutaneous melanocytosis ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Acute myeloid leukemia ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Neuroblastoma ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Non-small cell lung carcinoma ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Nasopharyngeal neoplasm ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Glioblastoma ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Adrenal cortex carcinoma ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Lung adenocarcinoma ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Melanoma ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Neoplasm of brain ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Malignant melanoma of skin ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Gastric adenocarcinoma ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Hepatocellular carcinoma ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Neoplasm of the large intestine ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Multiple myeloma ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Ras Inhibitor response ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Vascular Tumors Including Pyogenic Granuloma ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND RASopathy ClinVar Detail
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND not provided ClinVar Detail
Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively activ... DisGeNET Detail
These results suggest a crucial role of keratinocytic RXRα to suppress formation of UVB-induced mela... DisGeNET Detail
Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively activ... DisGeNET Detail
Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and... DisGeNET Detail
Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, an... DisGeNET Detail
We have evaluated five real-time ARMS assays: BRAF 1799T&gt;A, [this includes V600E and V600K] and N... DisGeNET Detail
Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, an... DisGeNET Detail
Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We report two cases of mCRC with a Q61K NRAS mutation that had a favorable response to bevacizumab a... DisGeNET Detail
We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant protei... DisGeNET Detail
In this study, we performed an integrative analysis of DNA methylation, gene expression, and microRN... DisGeNET Detail
Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. DisGeNET Detail
Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. DisGeNET Detail
We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant protei... DisGeNET Detail
We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant protei... DisGeNET Detail
Carcinogen treatment in mouse selectively expressing activated N-Ras Q61K in melanocytes recapitulat... DisGeNET Detail
In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resista... DisGeNET Detail
In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resista... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... DisGeNET Detail
Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... DisGeNET Detail
Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... DisGeNET Detail
Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... DisGeNET Detail
Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48% Q61K, 40% Q61R) of ... 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
rs121913254 dbSNP
Genome
hg38
Position
chr1:114,713,909-114,713,909
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
Q61K
Transcript 1 (CIViC Variant)
ENST00000369535.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/427
Genome browser