Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.D278fs

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.D278fs
c.832_833fs
Surrounding Variants
1 paper
NM_001628.4
p.E280K
c.838G>A
1 paper
NM_001628.4
p.V276fs
c.826_827fs
3 papers
NM_001628.4
p.E280D
c.840A>C
1 paper
NM_001628.4
p.S282I
c.845G>T
1 paper
NM_001628.4
p.S282N
c.845G>A
1 paper
NM_001628.4
p.S283N
c.848G>A
1 paper
NM_001628.4
p.Q284*
c.850C>T
1 paper
NM_001628.4
p.K275_V276Splc
c.826-10T>C
5 papers
NM_001628.4
p.M286K
c.857T>A
2 papers
NM_001628.4
p.T287A
c.859A>G
2 papers
NM_001628.4
p.T288A
c.862A>G
1 paper
NM_001628.4
p.T288P
c.862A>C
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