Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C3
Variant:p.C154W

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
2 papers
NM_003739.6
p.C154W
c.462T>G
Surrounding Variants
3 papers
NM_003739.6
p.C154Y
c.461G>A
1 paper
NM_003739.6
p.C154S
c.461G>C
1 paper
NM_003739.6
p.C154F
c.461G>T
1 paper
NM_003739.6
p.C154S
c.460T>A
1 paper
NM_003739.6
p.K153K
c.459G>A
1 paper
NM_003739.6
p.E152K
c.454G>A
1 paper
NM_003739.6
p.L159V
c.475T>G
5 papers
NM_003739.6
p.R170C
c.508C>T
1 paper
NM_003739.6
p.R170L
c.509G>T
15 papers
NM_003739.6
p.P180S
c.538C>T
1 paper
NM_003739.6
p.G181fs
c.541_542fs
1 paper
NM_003739.6
p.G181_L182insFs
c.543_544insCT
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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."