Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.T288N

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.T288N
c.863C>A
Surrounding Variants
2 papers
NM_001628.4
p.T288A
c.862A>G
1 paper
NM_001628.4
p.T288P
c.862A>C
1 paper
NM_001628.4
p.L289S
c.866T>C
1 paper
NM_001628.4
p.L289F
c.867A>T
2 papers
NM_001628.4
p.T287A
c.859A>G
1 paper
NM_001628.4
p.L289F
c.867A>C
2 papers
NM_001628.4
p.L290P
c.869T>C
5 papers
NM_001628.4
p.M286K
c.857T>A
1 paper
NM_001628.4
p.T288_L290delFs
c.862_869del8
1 paper
NM_001628.4
p.S291insFs
c.872_873insA
2 papers
NM_001628.4
p.Y292insFs
c.874_875insG
1 paper
NM_001628.4
p.Q284*
c.850C>T
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."