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PKD1 c.862C>T ;(p.Q288*)
Variant ID: 16-2168131-G-A
NM_001009944.2(
PKD1
):c.862C>T;(p.Q288*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: 862C>T
PubMed Link:
31189880
Variant Present in the following documents:
41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.
Molecular Genetics & Genomic Medicine
Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X
Publication Date: 2019-06
Variant appearance in text: PKD1: 862C>T; Gln288X
PubMed Link:
31056860
Variant Present in the following documents:
Main text
MGG3-7-e720.pdf
View BVdb publication page
High Resolution Melt analysis for mutation screening in PKD1 and PKD2.
Bmc Nephrology
Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S
Publication Date: 2011-10-18
Variant appearance in text: PKD1: 862C>T; Gln288X
PubMed Link:
22008521
Variant Present in the following documents:
Main text
1471-2369-12-57.pdf
View BVdb publication page