Bibliome.ai browser hg19
Search
About
Stats
FAQ
PKD1 c.3131_3132delinsAT ;(p.L1044H)
Variant ID: 16-2162818-CA-AT
NM_001009944.2(
PKD1
):c.3131_3132delinsAT;(p.L1044H)
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:
A PKD1L3 splice variant in taste buds is not cleaved at the G protein-coupled receptor proteolytic site.
Biochemical And Biophysical Research Communications
Kashyap, Parul P; Ng, Courtney C; Wang, Zhifei Z; Li, Bin B; Arif Pavel, Mahmud M; Martin, Hannah H; Yu, Yong Y
Publication Date: 2019-05-14
Variant appearance in text: PKD1: L1044H
PubMed Link:
30928102
Variant Present in the following documents:
Main text
View BVdb publication page