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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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