DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000281708:c.1436G>A
Reference Version: GRCh37
Chromosome: 4
Start: 153247366
Stop: 153247366
Strand: -1
Transcript: ENST00000281708 (ensembl - 74_37)
Gene: FBXW7 ( View drug interactions on DGIdb )

Information

Reference: C
Variant: T
Amino Acid: p.R479Q
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.1436
Tags: likely pathogenic

Disease Data

Disease	Source	Batch	Tags	External Links
colorectal cancer	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
head and neck squamous cell 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 squamous cell carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
uterine corpus endometrial carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
skin melanoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
papillary renal cell carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic
glioblastoma multiforme	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
urinary bladder urothelial carcinoma	Chang et al., 2016, Nat. Biotechnol.	Pan-cancer recurrent hotspots (View variants)	likely pathogenic

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