CFTR c.427_429delinsAAG ;(p.F143K)

Variant ID: 7-117171106-TTT-AAG

NM_000492.3(CFTR):c.427_429delinsAAG;(p.F143K)

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:

Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation.

The Journal Of Physiology
Hong, Jeong Hee JH; Muhammad, Emad E; Zheng, Changyu C; Hershkovitz, Eli E; Alkrinawi, Soliman S; Loewenthal, Neta N; Parvari, Ruti R; Muallem, Shmuel S
Publication Date: 2015-12-15

Variant appearance in text: CFTR: F143K
PubMed Link: 26486891
Variant Present in the following documents:
  • Main text
View BVdb publication page