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PKD1 c.12460_12461delinsGC ;(p.R4154A)
Variant ID: 16-2140179-CG-GC
NM_001009944.2(
PKD1
):c.12460_12461delinsGC;(p.R4154A)
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:
Protein phosphatase 1α interacts with a novel ciliary targeting sequence of polycystin-1 and regulates polycystin-1 trafficking.
Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Luo, Chong C; Wu, Maoqing M; Su, Xuefeng X; Yu, Fangyan F; Brautigan, David L DL; Chen, Jianghua J; Zhou, Jing J
Publication Date: 2019-09
Variant appearance in text: PKD1: R4154A
PubMed Link:
31157564
Variant Present in the following documents:
Main text
View BVdb publication page