CFTR c.2056_2057inv ;(p.S686D)

Variant ID: 7-117232277-TC-GA

NM_000492.3(CFTR):c.2056_2057inv;(p.S686D)

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:

Changes in the R-region interactions depend on phosphorylation and contribute to PKA and PKC regulation of the cystic fibrosis transmembrane conductance regulator chloride channel.

Faseb Bioadvances
Poroca, Diogo R DR; Amer, Noha N; Li, Audrey A; Hanrahan, John W JW; Chappe, Valerie M VM
Publication Date: 2020-01

Variant appearance in text: CFTR: S686D
PubMed Link: 32123855
Variant Present in the following documents:
  • Main text
  • FBA2-2-33.pdf
View BVdb publication page