CFTR c.544_545delinsGC ;(p.S182A)

Variant ID: 7-117174384-AG-GC

NM_000492.3(CFTR):c.544_545delinsGC;(p.S182A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Identifying the molecular target sites for CFTR potentiators GLPG1837 and VX-770.

The Journal Of General Physiology
Yeh, Han-I HI; Qiu, Liming L; Sohma, Yoshiro Y; Conrath, Katja K; Zou, Xiaoqin X; Hwang, Tzyh-Chang TC
Publication Date: 2019-07-01

Variant appearance in text: CFTR: S182A
PubMed Link: 31164398
Variant Present in the following documents:
  • Main text
  • JGP_201912360.pdf
  • JGP_201912360_sm.pdf
View BVdb publication page