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PKD1 c.11313G>A ;(p.S3771=)
Variant ID: 16-2142146-C-T
NM_001009944.2(
PKD1
):c.11313G>A;(p.S3771=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A pan-cancer analysis of synonymous mutations.
Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12
Variant appearance in text: PKD1: 11313G>A
PubMed Link:
31189880
Variant Present in the following documents:
41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.
Rna Biology
Claverie-Martin, Felix F; Gonzalez-Paredes, Francisco J FJ; Ramos-Trujillo, Elena E
Publication Date: 2015
Variant appearance in text: PKD1: 11313G>A
PubMed Link:
25757501
Variant Present in the following documents:
Main text
View BVdb publication page