Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.T192_Q193ins6

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.T192_Q193ins6
c.574_578ins18
Surrounding Variants
1 paper
NM_001628.4
p.T192S
c.574A>T
1 paper
NM_001628.4
p.T192T
c.576T>A
1 paper
NM_001628.4
p.Q193*
c.577C>T
1 paper
NM_001628.4
p.Y190*
c.570T>G
1 paper
NM_001628.4
p.Y190*
c.570T>A
1 paper
NM_001628.4
p.Q193R
c.578A>G
3 papers
NM_001628.4
p.Y190F
c.569A>T
1 paper
NM_001628.4
p.Y190insFs
c.568dupT
1 paper
NM_001628.4
p.E194*
c.580G>T
1 paper
NM_001628.4
p.E194E
c.582G>A
1 paper
NM_001628.4
p.P189T
c.565C>A
1 paper
NM_001628.4
p.K195M
c.584A>T
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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."