CFTR c.1604A>C ;(p.E535A)

Variant ID: 7-117227812-A-C

NM_000492.3(CFTR):c.1604A>C;(p.E535A)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Mutation of Glu521 or Glu535 in cytoplasmic loop 5 causes differential misfolding in multiple domains of multidrug and organic anion transporter MRP1 (ABCC1).

The Journal Of Biological Chemistry
Iram, Surtaj H SH; Cole, Susan P C SP
Publication Date: 2012-03-02

Variant appearance in text: CFTR: E535A
PubMed Link: 22232552
Variant Present in the following documents:
  • Main text
View BVdb publication page


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: CFTR: E535A
PubMed Link: 21177244
Variant Present in the following documents:
  • Main text
View BVdb publication page