PC c.1762_1763delinsGC ;(p.K588A)

Variant ID: 11-66619972-TT-GC

NM_001040716.1(PC):c.1762_1763delinsGC;(p.K588A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: PC: K588A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Structural basis for anion conduction in the calcium-activated chloride channel TMEM16A.

Elife
Paulino, Cristina C; Neldner, Yvonne Y; Lam, Andy Km AK; Kalienkova, Valeria V; Brunner, Janine Denise JD; Schenck, Stephan S; Dutzler, Raimund R
Publication Date: 2017-05-31

Variant appearance in text: PC: K588A
PubMed Link: 28561733
Variant Present in the following documents:
  • elife-26232.pdf
View BVdb publication page



Mutational analysis of predicted interactions between the catalytic and P domains of prohormone convertase 3 (PC3/PC1).

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ueda, Kazuya K; Lipkind, Gregory M GM; Zhou, An A; Zhu, Xiaorong X; Kuznetsov, Andrey A; Philipson, Louis L; Gardner, Paul P; Zhang, Chunling C; Steiner, Donald F DF
Publication Date: 2003-05-13

Variant appearance in text: PC: K588A
PubMed Link: 12721373
Variant Present in the following documents:
  • Main text
View BVdb publication page