Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.E65_V68del0

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.E65_V68del0
c.194_202del9
Surrounding Variants
1 paper
NM_001628.4
p.V68insFs
c.203_204insC
1 paper
NM_001628.4
p.V68insFs
c.203_204insA
1 paper
NM_001628.4
p.Q66insFs
c.198dupG
1 paper
NM_001628.4
p.V67A
c.200T>C
2 papers
NM_001628.4
p.V67E
c.200T>A
1 paper
NM_001628.4
p.K69R
c.206A>G
1 paper
NM_001628.4
p.R64_K69delFs
c.192_205del14
1 paper
NM_001628.4
p.K69insFs
c.206_207insA
1 paper
NM_001628.4
p.V67M
c.199G>A
2 papers
NM_001628.4
p.R70C
c.208C>T
1 paper
NM_001628.4
p.R70S
c.208C>A
1 paper
NM_001628.4
p.N53_K69delFs
c.159_207del49
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