PKD1 c.5825G>A ;(p.R1942H)

Variant ID: 16-2159343-C-T

NM_001009944.2(PKD1):c.5825G>A;(p.R1942H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

Nature Communications
von Loga, Katharina K; Woolston, Andrew A; Punta, Marco M; Barber, Louise J LJ; Griffiths, Beatrice B; Semiannikova, Maria M; Spain, Georgia G; Challoner, Benjamin B; Fenwick, Kerry K; Simon, Ronald R; Marx, Andreas A; Sauter, Guido G; Lise, Stefano S; Matthews, Nik N; Gerlinger, Marco M
Publication Date: 2020-01-16

Variant appearance in text: PKD1: R1942H
PubMed Link: 31949146
Variant Present in the following documents:
  • 41467_2019_13915_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Apoptosis and autophagy in polycystic kidney disease (PKD).

Cellular Signalling
Nowak, Kristen L KL; Edelstein, Charles L CL
Publication Date: 2020-04

Variant appearance in text: PKD1: R1942H
PubMed Link: 31881325
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: PKD1: R1942H
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



A missense mutation in PKD1 attenuates the severity of renal disease.

Kidney International
Pei, York Y; Lan, Zheng Z; Wang, Kairong K; Garcia-Gonzalez, Miguel M; He, Ning N; Dicks, Elizabeth E; Parfrey, Patrick P; Germino, Gregory G; Watnick, Terry T
Publication Date: 2012-02

Variant appearance in text: PKD1: R1942H
PubMed Link: 22031115
Variant Present in the following documents:
  • Main text
View BVdb publication page