CFTR c.331C>G ;(p.P111A)

Variant ID: 7-117171010-C-G

NM_000492.3(CFTR):c.331C>G;(p.P111A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: CFTR: P111A; rs397508541
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.

The Journal Of General Physiology
Cui, Guiying G; Rahman, Kazi S KS; Infield, Daniel T DT; Kuang, Christopher C; Prince, Chengyu Z CZ; McCarty, Nael A NA
Publication Date: 2014-08

Variant appearance in text: CFTR: P111A
PubMed Link: 25024266
Variant Present in the following documents:
  • Main text
  • JGP_201311122.pdf
View BVdb publication page