CFTR c.1001_1002delinsAT ;(p.R334H)

Variant ID: 7-117180285-GG-AT

NM_000492.3(CFTR):c.1001_1002delinsAT;(p.R334H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular determinants and role of an anion binding site in the external mouth of the CFTR chloride channel pore.

The Journal Of Physiology
Gong, Xiandi X; Linsdell, Paul P
Publication Date: 2003-06-01

Variant appearance in text: CFTR: R334H
PubMed Link: 12679372
Variant Present in the following documents:
  • Main text
View BVdb publication page



CFTR: covalent and noncovalent modification suggests a role for fixed charges in anion conduction.

The Journal Of General Physiology
Smith, S S SS; Liu, X X; Zhang, Z R ZR; Sun, F F; Kriewall, T E TE; McCarty, N A NA; Dawson, D C DC
Publication Date: 2001-10

Variant appearance in text: CFTR: R334H
PubMed Link: 11585852
Variant Present in the following documents:
  • Main text
  • 8480.pdf
View BVdb publication page