Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C2
Variant:p.N300T

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
7 papers
NM_001393392.1
p.N300T
c.899A>C
Surrounding Variants
1 paper
NM_001393392.1
p.R304L
c.911G>T
1 paper
NM_001393392.1
p.M293V
c.877A>G
2 papers
NM_001393392.1
p.P318S
c.952C>T
1 paper
NM_001393392.1
p.F319S
c.956T>C
1 paper
NM_001393392.1
p.Q282_V283Splc
c.846+180G>A
1 paper
NM_001393392.1
p.Q282R
c.845A>G
1 paper
NM_001393392.1
p.N280K
c.840C>G
2 papers
NM_001393392.1
p.N280K
c.840C>A
1 paper
NM_001393392.1
p.R276G
c.826C>G
1 paper
NM_001393392.1
p.K270M
c.809A>T
1 paper
NM_001393392.1
p.L261L
c.783G>A
3 papers
NM_001393392.1
p.R258C
c.772C>T
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