Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.E65A

AKR1B1

1,820 papers

RefSeq Summary

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including th...

Pfam Domains

Aldo_ket_redaa 15–294UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 1 member B

HGNC Previous Symbol

ALDR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001628.4
p.E65A
c.194A>C
Surrounding Variants
1 paper
NM_001628.4
p.E65V
c.194A>T
1 paper
NM_001628.4
p.E65G
c.194A>G
1 paper
NM_001628.4
p.V57_R64del0
c.171_191del21
1 paper
NM_001628.4
p.E65Q
c.193G>C
1 paper
NM_001628.4
p.R64_E65ins2
c.192_193ins6
1 paper
NM_001628.4
p.Q66*
c.196C>T
1 paper
NM_001628.4
p.R64M
c.191G>T
1 paper
NM_001628.4
p.Q66L
c.197A>T
1 paper
NM_001628.4
p.R64W
c.190A>T
1 paper
NM_001628.4
p.V57_L63del7
c.169_188del21
1 paper
NM_001628.4
p.V67M
c.199G>A
1 paper
NM_001628.4
p.Q66insFs
c.198dupG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."