Varaico: Literature-Extracted Genetic Variants

Gene:AKR1D1
Variant:p.L239S

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.L239S
c.716T>C
Surrounding Variants
5 papers
NM_005989.4
p.D241V
c.722A>T
1 paper
NM_005989.4
p.K249E
c.745A>G
1 paper
NM_005989.4
p.I258T
c.773T>C
16 papers
NM_005989.4
p.R261C
c.781C>T
3 papers
NM_005989.4
p.R261H
c.782G>A
1 paper
NM_005989.4
p.Q265K
c.793C>A
16 papers
NM_005989.4
p.R266Q
c.797G>A
2 papers
NM_005989.4
p.G267W
c.799G>T
1 paper
NM_005989.4
p.V269Fs
c.805delinsGCTTTAFs
1 paper
NM_005989.4
p.V269F
c.805G>T
1 paper
NM_005989.4
p.K273R
c.818A>G
1 paper
NM_005989.4
p.R279S
c.837G>C
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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."