Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.L18L

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.L18L
c.54G>A
Surrounding Variants
1 paper
NM_001628.4
p.T20S
c.58A>T
1 paper
NM_001628.4
p.T20P
c.58A>C
1 paper
NM_001628.4
p.G17R
c.49G>A
1 paper
NM_001628.4
p.T20S
c.59C>G
3 papers
NM_001628.4
p.G19_T20delFs
c.57_58delTA
1 paper
NM_001628.4
p.L16L
c.48G>A
1 paper
NM_001628.4
p.T20delFs
c.58_59delGT
1 paper
NM_001628.4
p.G19_T20del1
c.57_59delGTA
4 papers
NM_001628.4
p.L16P
c.47T>C
1 paper
NM_001628.4
p.L16Q
c.47T>A
1 paper
NM_001628.4
p.G19_T20del2
c.55_59del6
1 paper
NM_001628.4
p.G19_T20delFs
c.57_60del4
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