Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.E72K

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.E72K
c.214G>A
Surrounding Variants
1 paper
NM_001628.4
p.R70_E71del2
c.208_212del6
1 paper
NM_001628.4
p.E71D
c.213G>C
2 papers
NM_001628.4
p.E72V
c.215A>T
1 paper
NM_001628.4
p.E72ins1
c.215_216insGCG
1 paper
NM_001628.4
p.E72D
c.216G>T
1 paper
NM_001628.4
p.E72D
c.216G>C
2 papers
NM_001628.4
p.E71G
c.212A>G
1 paper
NM_001628.4
p.E71*
c.211G>T
1 paper
NM_001628.4
p.E71Q
c.211G>C
1 paper
NM_001628.4
p.E71K
c.211G>A
1 paper
NM_001628.4
p.L73F
c.217C>T
1 paper
NM_001628.4
p.L73insFs
c.218_219insA
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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."