Varaico: Literature-Extracted Genetic Variants

Gene:AKR1D1
Variant:p.A44D

AKR1D1

108 papers

RefSeq Summary

The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme ...

Pfam Domains

Aldo_ket_redaa 20–304UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 1 member D1

HGNC Previous Symbol

SRD5B1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005989.4
p.A44D
c.131C>A
Surrounding Variants
1 paper
NM_005989.4
p.D46G
c.137A>G
5 papers
NM_005989.4
p.R50*
c.148C>T
2 papers
NM_005989.4
p.R50Q
c.149G>A
2 papers
NM_005989.4
p.I52T
c.155T>C
1 paper
NM_005989.4
p.G35G
c.105A>G
1 paper
NM_005989.4
p.D53A
c.158A>C
2 papers
NM_005989.4
p.D53G
c.158A>G
1 paper
NM_005989.4
p.D53V
c.158A>T
1 paper
NM_005989.4
p.G35R
c.103G>A
1 paper
NM_005989.4
p.G35R
c.103G>C
2 papers
NM_005989.4
p.Y58F
c.173A>T
1 paper
NM_005989.4
p.Y58*
c.174C>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."