PKD1 c.1910C>T ;(p.A637V)

Variant ID: 16-2165566-G-A

NM_001009944.2(PKD1):c.1910C>T;(p.A637V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: PKD1: A637V
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Patient-derived xenografts and organoids model therapy response in prostate cancer.

Nature Communications
Karkampouna, Sofia S; La Manna, Federico F; Benjak, Andrej A; Kiener, Mirjam M; De Menna, Marta M; Zoni, Eugenio E; Grosjean, Joël J; Klima, Irena I; Garofoli, Andrea A; Bolis, Marco M; Vallerga, Arianna A; Theurillat, Jean-Philippe JP; De Filippo, Maria R MR; Genitsch, Vera V; Keller, David D; Booij, Tijmen H TH; Stirnimann, Christian U CU; Eng, Kenneth K; Sboner, Andrea A; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S; Gray, Peter C PC; Spahn, Martin M; Rubin, Mark A MA; Thalmann, George N GN; Kruithof-de Julio, Marianna M
Publication Date: 2021-02-18

Variant appearance in text: PKD1: Ala637Val
PubMed Link: 33602919
Variant Present in the following documents:
  • 41467_2021_21300_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Plos Genetics
Saini, Natalie N; Giacobone, Camille K CK; Klimczak, Leszek J LJ; Papas, Brian N BN; Burkholder, Adam B AB; Li, Jian-Liang JL; Fargo, David C DC; Bai, Re R; Gerrish, Kevin K; Innes, Cynthia L CL; Schurman, Shepherd H SH; Gordenin, Dmitry A DA
Publication Date: 2021-01

Variant appearance in text: PKD1: A637V
PubMed Link: 33444353
Variant Present in the following documents:
  • pgen.1009302.s014.xlsx, sheet 1
View BVdb publication page



System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Scientific Reports
Jin, Meiling M; Xie, Yuansheng Y; Chen, Zhiqiang Z; Liao, Yujie Y; Li, Zuoxiang Z; Hu, Panpan P; Qi, Yan Y; Yin, Zhiwei Z; Li, Qinggang Q; Fu, Ping P; Chen, Xiangmei X
Publication Date: 2016-10-26

Variant appearance in text: PKD1: 1910C>T; A637V
PubMed Link: 27782177
Variant Present in the following documents:
  • srep35945-s1.pdf
View BVdb publication page