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PKD1 c.12685_12686delinsGC ;(p.L4229A)
Variant ID: 16-2139954-AG-GC
NM_001009944.2(
PKD1
):c.12685_12686delinsGC;(p.L4229A)
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:
Regulation of polycystin-1 ciliary trafficking by motifs at its C-terminus and polycystin-2 but not by cleavage at the GPS site.
Journal Of Cell Science
Su, Xuefeng X; Wu, Maoqing M; Yao, Gang G; El-Jouni, Wassim W; Luo, Chong C; Tabari, Azadeh A; Zhou, Jing J
Publication Date: 2015-11-15
Variant appearance in text: PKD1: L4229A
PubMed Link:
26430213
Variant Present in the following documents:
Main text
View BVdb publication page