DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000342988:c.1082G>A
Reference Version: GRCh37
Chromosome: 18
Start: 48591919
Stop: 48591919
Strand: 1
Transcript: ENST00000342988 (ensembl - 74_37)
Gene: SMAD4 ( View drug interactions on DGIdb )

Information

Reference: G
Variant: A
Amino Acid: p.R361H
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.1082
Tags: pathogenic likely pathogenic

Disease Data

Disease	Source	Batch	Tags	External Links
colorectal cancer	Takagi et al., 1996, Gastroenterology	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Hata et al., 1998, Mol Med Today	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Koyama et al., 1999, Mutat. Res.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Massagué et al., 2000, EMBO J.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Miyaki et al., 2003, Biochem. Biophys. Res. Commun.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	De Bosscher et al., 2004, Biochem. J.	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Prokova et al., 2007, Biochemistry	My Cancer Genome (View variants)	pathogenic	My Cancer Genome
colorectal cancer	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
pancreas adenocarcinoma	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
esophageal carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
cervix 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
breast cancer	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic

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