Varaico: Literature-Extracted Genetic Variants

Gene:AKR7A2
Variant:p.A229V

AKR7A2

72 papers

RefSeq Summary

The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 ...

Pfam Domains

Aldo_ket_redaa 41–348UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 7 member A2

HGNC Alias Symbol

AFAR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003689.4
p.A229V
c.686C>T
Surrounding Variants
1 paper
NM_003689.4
p.A229S
c.685G>T
1 paper
NM_003689.4
p.Y223H
c.667T>C
1 paper
NM_003689.4
p.C214Y
c.641G>A
1 paper
NM_003689.4
p.A202T
c.604G>A
2 papers
NM_003689.4
p.G198S
c.592G>A
1 paper
NM_003689.4
p.Q197_G198Splc
c.592-1G>A
2 papers
NM_003689.4
p.S255N
c.764G>A
1 paper
NM_003689.4
p.Y260C
c.779A>G
1 paper
NM_003689.4
p.R263Splc
c.788+1G>A
1 paper
NM_003689.4
p.L184F
c.550C>T
1 paper
NM_003689.4
p.A174V
c.521C>T
1 paper
NM_003689.4
p.Y173S
c.518A>C
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."