Varaico: Literature-Extracted Genetic Variants

Gene:AKR1B1
Variant:p.K78_L79Splc

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.K78_L79Splc
c.235-13C>G
Surrounding Variants
2 papers
NM_001628.4
p.K78_L79Splc
c.235-2A>G
1 paper
NM_001628.4
p.K78_L79Splc
c.235-2A>C
1 paper
NM_001628.4
p.W80ins2
c.239_240ins6
1 paper
NM_001628.4
p.W80insFs
c.239_240ins11
1 paper
NM_001628.4
p.W80insFs
c.239_240ins19
1 paper
NM_001628.4
p.C81*
c.243C>A
1 paper
NM_001628.4
p.T82T
c.246G>A
1 paper
NM_001628.4
p.Y83N
c.247T>A
1 paper
NM_001628.4
p.Y83*
c.249C>G
1 paper
NM_001628.4
p.H84Y
c.250C>T
1 paper
NM_001628.4
p.H84Q
c.252T>A
1 paper
NM_001628.4
p.E85G
c.254A>G
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