Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.Y292insFs

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.Y292insFs
c.874_875insG
Surrounding Variants
1 paper
NM_001628.4
p.S291insFs
c.872_873insA
2 papers
NM_001628.4
p.N293Y
c.877A>T
1 paper
NM_001628.4
p.N293D
c.877A>G
1 paper
NM_001628.4
p.T288_L290delFs
c.862_869del8
2 papers
NM_001628.4
p.L290P
c.869T>C
1 paper
NM_001628.4
p.R294W
c.880A>T
1 paper
NM_001628.4
p.N293delFs
c.879delG
1 paper
NM_001628.4
p.L289F
c.867A>T
1 paper
NM_001628.4
p.L289F
c.867A>C
1 paper
NM_001628.4
p.L289S
c.866T>C
1 paper
NM_001628.4
p.N295S
c.884A>G
1 paper
NM_001628.4
p.T288N
c.863C>A
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