Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C2
Variant:p.K185E

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
3 papers
NM_001393392.1
p.K185E
c.553A>G
Surrounding Variants
1 paper
NM_001393392.1
p.P180L
c.539C>T
1 paper
NM_001393392.1
p.P180S
c.538C>T
1 paper
NM_001393392.1
p.K179E
c.535A>G
6 papers
NM_001393392.1
p.L172Q
c.515T>A
1 paper
NM_001393392.1
p.R171S
c.513G>T
1 paper
NM_001393392.1
p.R171S
c.513G>C
2 papers
NM_001393392.1
p.H170R
c.509A>G
1 paper
NM_001393392.1
p.S166Y
c.497C>A
2 papers
NM_001393392.1
p.G164R
c.490G>C
2 papers
NM_001393392.1
p.G164R
c.490G>A
1 paper
NM_001393392.1
p.I163insFs
c.487_488insAA
1 paper
NM_001393392.1
p.A150G
c.449C>G
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