Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.L105_L109delFs

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.L105_L109delFs
c.313_326del14
Surrounding Variants
1 paper
NM_001628.4
p.L109L
c.327T>A
1 paper
NM_001628.4
p.L109H
c.326T>A
1 paper
NM_001628.4
p.L105_L109delFs
c.314_327del14
1 paper
NM_001628.4
p.Y104_Y108delFs
c.310_323del14
1 paper
NM_001628.4
p.Y108insFs
c.322_323insGT
1 paper
NM_001628.4
p.W112G
c.334T>G
1 paper
NM_001628.4
p.W112R
c.334T>C
1 paper
NM_001628.4
p.W112R
c.334T>A
1 paper
NM_001628.4
p.L107F
c.319C>T
1 paper
NM_001628.4
p.W112_P113insFs
c.336_337ins32
1 paper
NM_001628.4
p.D106D
c.318C>T
2 papers
NM_001628.4
p.D106N
c.316G>A
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