Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.L63H

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
2 papers
NM_001628.4
p.L63H
c.188T>A
Surrounding Variants
1 paper
NM_001628.4
p.L63P
c.188T>C
2 papers
NM_001628.4
p.L63F
c.187C>T
2 papers
NM_001628.4
p.L63V
c.187C>G
2 papers
NM_001628.4
p.G56_K62del0
c.168_185del18
1 paper
NM_001628.4
p.K62N
c.186G>T
1 paper
NM_001628.4
p.K62N
c.186G>C
1 paper
NM_001628.4
p.R64W
c.190A>T
1 paper
NM_001628.4
p.V57_L63del7
c.169_188del21
1 paper
NM_001628.4
p.R64M
c.191G>T
1 paper
NM_001628.4
p.R64_E65ins2
c.192_193ins6
1 paper
NM_001628.4
p.E65Q
c.193G>C
1 paper
NM_001628.4
p.E65V
c.194A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."