Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.L5_L6delFs

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.L5_L6delFs
c.13_16del4
Surrounding Variants
1 paper
NM_001628.4
p.L6delFs
c.17delA
2 papers
NM_001628.4
p.L6L
c.16C>T
3 papers
NM_001628.4
p.L7P
c.20T>C
1 paper
NM_001628.4
p.L7delFs
c.19delG
2 papers
NM_001628.4
p.L5F
c.13C>T
1 paper
NM_001628.4
p.R4Fs
c.11delinsGTGFs
1 paper
NM_001628.4
p.L7delFs
c.19_20delAG
1 paper
NM_001628.4
p.R4H
c.11G>A
1 paper
NM_001628.4
p.N8S
c.23A>G
1 paper
NM_001628.4
p.R4C
c.10C>T
1 paper
NM_001628.4
p.N8K
c.24C>A
1 paper
NM_001628.4
p.N9_G10ins16
c.25_29ins48
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."