Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C2
Variant:p.H90Q

AKR1C2

133 papers

RefSeq Summary

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their co...

Pfam Domains

Aldo_ket_redaa 18–301UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 1 member C2

HGNC Previous Symbols

DDH2; TDD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001393392.1
p.H90Q
c.270T>G
Surrounding Variants
6 papers
NM_001393392.1
p.H90Q
c.270T>A
1 paper
NM_001393392.1
p.R91Q
c.272G>A
1 paper
NM_001393392.1
p.E93G
c.278A>G
3 papers
NM_001393392.1
p.S87C
c.259A>T
1 paper
NM_001393392.1
p.L85L
c.255T>C
1 paper
NM_001393392.1
p.V95insFs
c.283_284insGT
1 paper
NM_001393392.1
p.R96*
c.286C>T
1 paper
NM_001393392.1
p.Q107Q
c.321A>G
1 paper
NM_001393392.1
p.D109D
c.327C>T
2 papers
NM_001393392.1
p.V111A
c.332T>C
1 paper
NM_001393392.1
p.D112E
c.336C>G
1 paper
NM_001393392.1
p.D112E
c.336C>A
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