chrX:111123196:C>A Detail (hg38) (PAK3)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chrX:110,366,424-110,366,424 View the variant detail on this assembly version.
hg38	chrX:111,123,196-111,123,196

HGVS

PAK3

Type	Transcript	Protein
RefSeq	NM_001324328.1:c.93C>A	NP_001311257.1:p.Ser31Arg
	NM_001128173.2:c.93C>A	NP_001121645.1:p.Ser31Arg
	NM_001324326.1:c.93C>A	NP_001311255.1:p.Ser31Arg
	NM_001324327.1:c.93C>A	NP_001311256.1:p.Ser31Arg
	NM_001324329.1:c.93C>A	NP_001311258.1:p.Ser31Arg
	NM_001324331.1:c.93C>A	NP_001311260.1:p.Ser31Arg
	NM_001324332.1:c.93C>A	NP_001311261.1:p.Ser31Arg
	NM_001324333.1:c.93C>A	NP_001311262.1:p.Ser31Arg
	NM_001324334.1:c.93C>A	NP_001311263.1:p.Ser31Arg
	NM_002578.4:c.93C>A	NP_002569.1:p.Ser31Arg
	NR_136747.1:c.93C>A
	NM_001128172.2:c.93C>A	NP_001121644.1:p.Ser31Arg
	NM_001128167.2:c.93C>A	NP_001121639.1:p.Ser31Arg
	NM_001324325.1:c.93C>A	NP_001311254.1:p.Ser31Arg
	NM_001324330.1:c.93C>A	NP_001311259.1:p.Ser31Arg
	NM_001128166.2:c.93C>A	NP_001121638.1:p.Ser31Arg
	NM_001128168.2:c.93C>A	NP_001121640.1:p.Ser31Arg
Ensemble	ENST00000262836.6:c.93C>A	ENST00000262836.6:p.Ser31Arg
	ENST00000360648.8:c.93C>A	ENST00000360648.8:p.Ser31Arg
	ENST00000372007.10:c.93C>A	ENST00000372007.10:p.Ser31Arg
	ENST00000372010.5:c.93C>A	ENST00000372010.5:p.Ser31Arg
	ENST00000417227.5:c.93C>A	ENST00000417227.5:p.Ser31Arg
	ENST00000425146.5:c.93C>A	ENST00000425146.5:p.Ser31Arg
	ENST00000446737.5:c.93C>A	ENST00000446737.5:p.Ser31Arg
	ENST00000518291.6:c.93C>A	ENST00000518291.6:p.Ser31Arg
	ENST00000519681.5:c.93C>A	ENST00000519681.5:p.Ser31Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

PAK3

Type	Database	ID	Link
Gene	MIM	300142	OMIM
	HGNC	8592	HGNC
	Ensembl	ENSG00000077264	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Carcinoma of lung	We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pr...	BeFree	17059853	Detail
<0.001	Malignant neoplasm of lung	We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pr...	BeFree	17059853	Detail
0.001	colorectal carcinoma	Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal c...	BeFree	20363991	Detail
<0.001	squamous cell carcinoma	The results for the p21 Ser31Arg polymorphism suggested that 31Ser is a moderate...	BeFree	17059853	Detail
0.001	colorectal cancer	Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal c...	BeFree	20363991	Detail

Annotation

Annotations

Descrption	Source	Links
We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pro) and p21/CDKN1A (S...	DisGeNET	Detail
We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pro) and p21/CDKN1A (S...	DisGeNET	Detail
Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal cancer risk and progn...	DisGeNET	Detail
The results for the p21 Ser31Arg polymorphism suggested that 31Ser is a moderate-risk allele for squ...	DisGeNET	Detail
Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal cancer risk and progn...	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: rs1805077 dbSNP
Genome: hg38
Position: chrX:111,123,196-111,123,196
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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