Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C3
Variant:p.C145Y

AKR1C3

195 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
Aldo_ket_redaa 18–301UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 1 member C3

HGNC Previous Symbol

HSD17B5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_003739.6
p.C145Y
c.434G>A
Surrounding Variants
1 paper
NM_003739.6
p.E149_A150Splc
c.447+9T>G
1 paper
NM_003739.6
p.D132A
c.395A>C
1 paper
NM_003739.6
p.E127_L128Fs
c.381_383delinsCCFs
1 paper
NM_003739.6
p.E127fs
c.379_380fs
1 paper
NM_003739.6
p.P124L
c.371C>T
1 paper
NM_003739.6
p.P124fs
c.370_371fs
1 paper
NM_003739.6
p.P124_G125delFs
c.370_373del4
1 paper
NM_003739.6
p.E149_A150Splc
c.447+66A>G
1 paper
NM_003739.6
p.E149_A150Splc
c.447+191G>T
2 papers
NM_003739.6
p.E149_A150Splc
c.447+218G>A
2 papers
NM_003739.6
p.E149_A150Splc
c.448-212C>G
1 paper
NM_003739.6
p.E152K
c.454G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."