Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.P253A

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
2 papers
NM_001628.4
p.P253A
c.757C>G
Surrounding Variants
2 papers
NM_001628.4
p.F252Y
c.755T>A
1 paper
NM_001628.4
p.R251_F252delFs
c.753_754delAC
1 paper
NM_001628.4
p.M254_Q255insCA
c.760_764ins6
1 paper
NM_001628.4
p.R251Q
c.752G>A
1 paper
NM_001628.4
p.I250M
c.750C>G
1 paper
NM_001628.4
p.P253_M254del2
c.757_761del6
1 paper
NM_001628.4
p.I250T
c.749T>C
6 papers
NM_001628.4
p.R256W
c.766A>T
2 papers
NM_001628.4
p.I250F
c.748A>T
1 paper
NM_001628.4
p.R256T
c.767G>C
1 paper
NM_001628.4
p.L249V
c.745C>G
1 paper
NM_001628.4
p.N257S
c.770A>G
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