CFTR c.1507_1508delinsGC ;(p.K503A)

Variant ID: 7-117199632-AA-GC

NM_000492.3(CFTR):c.1507_1508delinsGC;(p.K503A)

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:

Expression and function of human MRP1 (ABCC1) is dependent on amino acids in cytoplasmic loop 5 and its interface with nucleotide binding domain 2.

The Journal Of Biological Chemistry
Iram, Surtaj H SH; Cole, Susan P C SP
Publication Date: 2011-03-04

Variant appearance in text: ABCC7: K503A
PubMed Link: 21177244
Variant Present in the following documents:
  • Main text
View BVdb publication page