Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.N53D

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.N53D
c.157A>G
Surrounding Variants
1 paper
NM_001628.4
p.E52delFs
c.155delT
2 papers
NM_001628.4
p.N53S
c.158A>G
1 paper
NM_001628.4
p.E54*
c.160G>T
1 paper
NM_001628.4
p.E52*
c.154G>T
1 paper
NM_001628.4
p.N51K
c.153T>G
1 paper
NM_001628.4
p.E54V
c.161A>T
1 paper
NM_001628.4
p.E54A
c.161A>C
2 papers
NM_001628.4
p.N51I
c.152A>T
1 paper
NM_001628.4
p.N51S
c.152A>G
1 paper
NM_001628.4
p.V55insFs
c.163_164insC
1 paper
NM_001628.4
p.V55M
c.163G>A
1 paper
NM_001628.4
p.V55E
c.164T>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."