Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.T192_I205del14

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.T192_I205del14
c.574_614del42
Surrounding Variants
1 paper
NM_001628.4
p.V206_V207insA
c.616_620ins3
1 paper
NM_001628.4
p.V206_V207ins15
c.616_620ins45
1 paper
NM_001628.4
p.I205I
c.615C>T
1 paper
NM_001628.4
p.V207delFs
c.619delC
2 papers
NM_001628.4
p.G204R
c.610G>C
1 paper
NM_001628.4
p.T208A
c.622A>G
1 paper
NM_001628.4
p.T208I
c.623C>T
1 paper
NM_001628.4
p.K203R
c.608A>G
1 paper
NM_001628.4
p.T208delFs
c.624delG
1 paper
NM_001628.4
p.K203E
c.607A>G
2 papers
NM_001628.4
p.K203Q
c.607A>C
1 paper
NM_001628.4
p.K203_G204insA
c.607_611ins3
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