CFTR c.2323_2324delinsGC ;(p.H775A)

Variant ID: 7-117232544-CA-GC

NM_000492.3(CFTR):c.2323_2324delinsGC;(p.H775A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.

The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2010-12-24

Variant appearance in text: CFTR: H775A
PubMed Link: 20952391
Variant Present in the following documents:
  • Main text
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