Varaico: Literature-Extracted Genetic Variants

Gene:AKR7A3
Variant:p.A254A

AKR7A3

49 papers

RefSeq Summary

Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004].

Pfam Domains

Aldo_ket_redaa 12–320UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 7 member A3

HGNC Previous Name

aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012067.3
p.A254A
c.762C>T
Surrounding Variants
1 paper
NM_012067.3
p.R269Q
c.806G>A
1 paper
NM_012067.3
p.R235C
c.703C>T
1 paper
NM_012067.3
p.R235C
c.703C>T
2 papers
NM_012067.3
p.P219P
c.657C>T
1 paper
NM_012067.3
p.P219L
c.656C>T
13 papers
NM_012067.3
p.N215D
c.643A>G
1 paper
NM_012067.3
p.F194L
c.582C>G
1 paper
NM_012067.3
p.F194L
c.582C>A
1 paper
NM_012067.3
p.F194L
c.580T>C
1 paper
NM_012067.3
p.E180K
c.538G>A
1 paper
NM_012067.3
p.Q169_G170Splc
c.508-18G>T
1 paper
NM_012067.3
p.P309L
c.926C>T
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