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.




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