CFTR c.349_350delinsGC ;(p.R117A)

Variant ID: 7-117171028-CG-GC

NM_000492.3(CFTR):c.349_350delinsGC;(p.R117A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Sperm retrieval and intracytoplasmic sperm injection outcomes in men with cystic fibrosis disease versus congenital bilateral absence of the vas deferens.

Asian Journal Of Andrology
McBride, J Abram JA; Kohn, Taylor P TP; Mazur, Daniel J DJ; Lipshultz, Larry I LI; Coward, R Matthew RM
Publication Date: 2021

Variant appearance in text: CFTR: r117a
PubMed Link: 32930103
Variant Present in the following documents:
  • Main text
  • AJA-23-140.pdf
View BVdb publication page



Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02

Variant appearance in text: CFTR: R117A
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
View BVdb publication page



On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator.

The Journal Of Physiology
Yu, Ying-Chun YC; Sohma, Yoshiro Y; Hwang, Tzyh-Chang TC
Publication Date: 2016-06-15

Variant appearance in text: CFTR: R117A
PubMed Link: 26846474
Variant Present in the following documents:
  • Main text
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: R117A
PubMed Link: 25024266
Variant Present in the following documents:
  • Main text
  • supp_jgp.201311122_JGP_201311122_sm.pdf
  • JGP_201311122.pdf
View BVdb publication page