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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