DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000269305:c.716A>G
Reference Version: GRCh37
Chromosome: 17
Start: 7577565
Stop: 7577565
Strand: -1
Transcript: ENST00000269305 (ensembl - 74_37)
Gene: TP53 ( View drug interactions on DGIdb )

Information

Reference: T
Variant: C
Amino Acid: p.N239S
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.716
Tags: likely pathogenic

Disease Data

Disease	Source	Batch	Tags	External Links
uterine corpus endometrial carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
lung adenocarcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
head and neck squamous cell carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
uterine carcinosarcoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
gastric adenocarcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
prostate adenocarcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
ovarian serous cystadenocarcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
hepatocellular carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
renal clear cell carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
chromophobe adenocarcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
colorectal cancer	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
breast cancer	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic

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