Varaico: Literature-Extracted Genetic Variants

Gene:AKR1D1
Variant:p.E120A

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
2 papers
NM_005989.4
p.E120A
c.359A>C
Surrounding Variants
1 paper
NM_005989.4
p.E120D
c.360A>C
1 paper
NM_005989.4
p.E120D
c.360A>T
2 papers
NM_005989.4
p.E120Q
c.358G>C
4 papers
NM_005989.4
p.K126_P127Splc
c.378+2T>C
1 paper
NM_005989.4
p.L111P
c.332T>C
11 papers
NM_005989.4
p.L106F
c.316C>T
1 paper
NM_005989.4
p.E96V
c.287A>T
1 paper
NM_005989.4
p.E96K
c.286G>A
1 paper
NM_005989.4
p.P95L
c.284C>T
1 paper
NM_005989.4
p.H93delFs
c.278delA
1 paper
NM_005989.4
p.K87_L88Splc
c.262-7C>A
1 paper
NM_005989.4
p.K87_L88Splc
c.262-40G>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."