Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.Y199H

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.Y199H
c.595T>C
Surrounding Variants
1 paper
NM_001628.4
p.Q198insFs
c.593_594insA
11 papers
NM_001628.4
p.Y199F
c.596A>T
1 paper
NM_001628.4
p.Q198E
c.592C>G
3 papers
NM_001628.4
p.Q198K
c.592C>A
2 papers
NM_001628.4
p.I197T
c.590T>C
1 paper
NM_001628.4
p.C200W
c.600C>G
1 paper
NM_001628.4
p.L196F
c.588A>T
1 paper
NM_001628.4
p.S202insFs
c.604_605insA
1 paper
NM_001628.4
p.S202F
c.605C>T
1 paper
NM_001628.4
p.K195M
c.584A>T
1 paper
NM_001628.4
p.K203E
c.607A>G
2 papers
NM_001628.4
p.K203Q
c.607A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."