CFTR c.1534_1535delinsGC ;(p.Y512A)

Variant ID: 7-117199659-TA-GC

NM_000492.3(CFTR):c.1534_1535delinsGC;(p.Y512A)

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:

Contribution of casein kinase 2 and spleen tyrosine kinase to CFTR trafficking and protein kinase A-induced activity.

Molecular And Cellular Biology
Luz, Simão S; Kongsuphol, Patthara P; Mendes, Ana Isabel AI; Romeiras, Francisco F; Sousa, Marisa M; Schreiber, Rainer R; Matos, Paulo P; Jordan, Peter P; Mehta, Anil A; Amaral, Margarida D MD; Kunzelmann, Karl K; Farinha, Carlos M CM
Publication Date: 2011-11

Variant appearance in text: CFTR: Y512A
PubMed Link: 21930781
Variant Present in the following documents:
  • Main text
View BVdb publication page