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.




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