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PC c.1624_1625delinsGC ;(p.R542A)
Variant ID: 11-66620110-CT-GC
NM_001040716.1(
PC
):c.1624_1625delinsGC;(p.R542A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The proppin Bcas3 and its interactor KinkyA localize to the early phagophore and regulate autophagy.
Autophagy
Yamada, Yoko Y; Schaap, Pauline P
Publication Date: 2021-03
Variant appearance in text: PC: R542A
PubMed Link:
32116088
Variant Present in the following documents:
KAUP_17_1725403.pdf
View BVdb publication page
Cryo-EM Studies of TMEM16F Calcium-Activated Ion Channel Suggest Features Important for Lipid Scrambling.
Cell Reports
Feng, Shengjie S; Dang, Shangyu S; Han, Tina Wei TW; Ye, Wenlei W; Jin, Peng P; Cheng, Tong T; Li, Junrui J; Jan, Yuh Nung YN; Jan, Lily Yeh LY; Cheng, Yifan Y
Publication Date: 2019-07-09
Variant appearance in text: PC: R542A
PubMed Link:
31291589
Variant Present in the following documents:
Main text
nihms-1534189.pdf
NIHMS1534189-supplement-4.pdf
View BVdb publication page