Bibliome.ai browser hg19
Search
About
Stats
FAQ
PKD1 c.901_902inv ;(p.T301V)
Variant ID: 16-2168091-GT-AC
NM_001009944.2(
PKD1
):c.901_902inv;(p.T301V)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The phosphorylation status of PAS-B distinguishes HIF-1alpha from HIF-2alpha in NBS1 repression.
The Embo Journal
To, Kenneth K-W KK; Sedelnikova, Olga A OA; Samons, Melissa M; Bonner, William M WM; Huang, L Eric LE
Publication Date: 2006-10-18
Variant appearance in text: PKD1: T301V
PubMed Link:
17024177
Variant Present in the following documents:
Main text
View BVdb publication page