CFTR c.1203G>T ;(p.W401C)

Variant ID: 7-117182156-G-T

NM_000492.3(CFTR):c.1203G>T;(p.W401C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Attenuation of Phosphorylation-dependent Activation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by Disease-causing Mutations at the Transmission Interface.

The Journal Of Biological Chemistry
Chin, Stephanie S; Yang, Donghe D; Miles, Andrew J AJ; Eckford, Paul D W PDW; Molinski, Steven S; Wallace, B A BA; Bear, Christine E CE
Publication Date: 2017-02-03

Variant appearance in text: CFTR: W401C
PubMed Link: 28003367
Variant Present in the following documents:
  • Main text
  • zbc1988.pdf
View BVdb publication page



K-ras and Dpc4 mutations in chronic pancreatitis: case series.

Croatian Medical Journal
Popović Hadzija, Marijana M; Korolija, Marina M; Jakić Razumović, Jasminka J; Pavković, Pajica P; Hadzija, Mirko M; Kapitanović, Sanja S
Publication Date: 2007-04

Variant appearance in text: CFTR: 1203G>T
PubMed Link: 17436386
Variant Present in the following documents:
  • Main text
View BVdb publication page