Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.E230_D231delFs

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.E230_D231delFs
c.690_691delCC
Surrounding Variants
1 paper
NM_001628.4
p.A221_E230del0
c.661_690del30
1 paper
NM_001628.4
p.E230_D231delFs
c.689_692del4
1 paper
NM_001628.4
p.E230insFs
c.689_690insA
1 paper
NM_001628.4
p.E230_D231insA
c.688_692ins3
1 paper
NM_001628.4
p.R233R
c.699G>A
1 paper
NM_001628.4
p.L229insFs
c.685_686insT
1 paper
NM_001628.4
p.L228F
c.682C>T
1 paper
NM_001628.4
p.I234M
c.702C>G
1 paper
NM_001628.4
p.L228_L229insTAG
c.682_686ins9
1 paper
NM_001628.4
p.S227_L228insA
c.679_683ins3
1 paper
NM_001628.4
p.A221_D225delFs
c.662_675del14
1 paper
NM_001628.4
p.A236T
c.706G>A
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