Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.S215A

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
3 papers
NM_001628.4
p.S215A
c.643T>G
Surrounding Variants
1 paper
NM_001628.4
p.S215_P216insGCG
c.643_647ins9
1 paper
NM_001628.4
p.G214A
c.641G>C
1 paper
NM_001628.4
p.G214D
c.641G>A
8 papers
NM_001628.4
p.G214R
c.640G>C
1 paper
NM_001628.4
p.G214S
c.640G>A
1 paper
NM_001628.4
p.P216_D217insFs
c.648_649insC
1 paper
NM_001628.4
p.P216fs
c.646_647fs
1 paper
NM_001628.4
p.Y210_L213delFs
c.630_637del8
1 paper
NM_001628.4
p.D217G
c.650A>G
1 paper
NM_001628.4
p.P212A
c.634C>G
1 paper
NM_001628.4
p.R218_P219insA
c.652_656ins3
1 paper
NM_001628.4
p.S211T
c.632G>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."