Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.R4H

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.R4H
c.11G>A
Surrounding Variants
1 paper
NM_001628.4
p.R4C
c.10C>T
2 papers
NM_001628.4
p.L5F
c.13C>T
1 paper
NM_001628.4
p.R4Fs
c.11delinsGTGFs
1 paper
NM_001628.4
p.S3insFs
c.8_9insT
1 paper
NM_001628.4
p.A2insFs
c.6dupA
1 paper
NM_001628.4
p.S3G
c.7A>G
2 papers
NM_001628.4
p.L6L
c.16C>T
1 paper
NM_001628.4
p.A2A
c.6A>T
1 paper
NM_001628.4
p.L5_L6delFs
c.13_16del4
1 paper
NM_001628.4
p.A2V
c.5C>T
1 paper
NM_001628.4
p.M1insFs
c.3dupG
1 paper
NM_001628.4
p.A2T
c.4G>A
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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."