Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.L258delFs

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.L258delFs
c.773_774delCA
Surrounding Variants
1 paper
NM_001628.4
p.R256_L258del3
c.766_773del9
1 paper
NM_001628.4
p.V259A
c.776T>C
1 paper
NM_001628.4
p.Q255_N257del3
c.763_770del9
1 paper
NM_001628.4
p.V260L
c.778G>C
1 paper
NM_001628.4
p.V260M
c.778G>A
2 papers
NM_001628.4
p.V260A
c.779T>C
1 paper
NM_001628.4
p.N257S
c.770A>G
1 paper
NM_001628.4
p.R256T
c.767G>C
1 paper
NM_001628.4
p.P262T
c.784C>A
6 papers
NM_001628.4
p.R256W
c.766A>T
1 paper
NM_001628.4
p.P262L
c.785C>T
1 paper
NM_001628.4
p.P253_M254del2
c.757_761del6
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