CFTR c.2771A>T ;(p.D924V)

Variant ID: 7-117243699-A-T

NM_000492.3(CFTR):c.2771A>T;(p.D924V)

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:

Mechanisms of CFTR Folding at the Endoplasmic Reticulum.

Frontiers In Pharmacology
Kim, Soo Jung SJ; Skach, William R WR
Publication Date: 2012

Variant appearance in text: CFTR: D924V
PubMed Link: 23248597
Variant Present in the following documents:
  • Main text
  • fphar-03-00201.pdf
View BVdb publication page


Sequence-specific retention and regulated integration of a nascent membrane protein by the endoplasmic reticulum Sec61 translocon.

Molecular Biology Of The Cell
Pitonzo, David D; Yang, Zhongying Z; Matsumura, Yoshihiro Y; Johnson, Arthur E AE; Skach, William R WR
Publication Date: 2009-01

Variant appearance in text: CFTR: D924V
PubMed Link: 19019984
Variant Present in the following documents:
  • Main text
View BVdb publication page