Varaico: Literature-Extracted Genetic Variants

Gene:AKR1D1

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
1–12 of 116 variants
17 papers
NM_005989.4
p.P198L
c.593C>T
16 papers
NM_005989.4
p.P133R
c.398C>G
16 papers
NM_005989.4
p.R261C
c.781C>T
16 papers
NM_005989.4
p.R266Q
c.797G>A
11 papers
NM_005989.4
p.L106F
c.316C>T
11 papers
NM_005989.4
p.G223E
c.668G>A
9 papers
NM_005989.4
p.P221L
c.662C>T
6 papers
NM_005989.4
p.A156G
c.467C>G
5 papers
NM_005989.4
p.R50*
c.148C>T
5 papers
NM_005989.4
p.D241V
c.722A>T
4 papers
NM_005989.4
p.K126_P127Splc
c.378+2T>C
4 papers
NM_005989.4
p.Y132*
c.396C>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."