PKD1 c.6891C>G ;(p.H2297Q)

Variant ID: 16-2158277-G-C

NM_001009944.2(PKD1):c.6891C>G;(p.H2297Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Expression and secretion of CXCL12 are enhanced in autosomal dominant polycystic kidney disease.

Bmb Reports
Kim, Hyunho H; Sung, Jinmo J; Kim, Hyunsuk H; Ryu, Hyunjin H; Cho Park, Hayne H; Oh, Yun Kyu YK; Lee, Hyun-Seob HS; Oh, Kook-Hwan KH; Ahn, Curie C
Publication Date: 2019-07

Variant appearance in text: PKD1: 6891C>G; H2297Q
PubMed Link: 31186083
Variant Present in the following documents:
  • Main text
  • bmb-52-463.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: PKD1: H2297Q
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page