Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.A46delFs

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.A46delFs
c.136_137delGC
Surrounding Variants
1 paper
NM_001628.4
p.A46A
c.138C>T
1 paper
NM_001628.4
p.H47Y
c.139C>T
1 paper
NM_001628.4
p.A46V
c.137C>T
3 papers
NM_001628.4
p.A46G
c.137C>G
1 paper
NM_001628.4
p.H47D
c.139C>G
1 paper
NM_001628.4
p.H47N
c.139C>A
1 paper
NM_001628.4
p.V48A
c.143T>C
1 paper
NM_001628.4
p.C45S
c.133T>A
1 paper
NM_001628.4
p.H47_V48del1
c.140_142delCAT
1 paper
NM_001628.4
p.A35_D44del10
c.103_131del30
1 paper
NM_001628.4
p.V48fs
c.142_143fs
1 paper
NM_001628.4
p.Y49H
c.145T>C
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