Varaico: Literature-Extracted Genetic Variants

Gene:AKR1D1
Variant:p.E130fs

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.E130fs
c.388_389fs
Surrounding Variants
1 paper
NM_005989.4
p.D129V
c.386A>T
4 papers
NM_005989.4
p.Y132*
c.396C>A
1 paper
NM_005989.4
p.Y132*
c.396C>G
16 papers
NM_005989.4
p.P133R
c.398C>G
1 paper
NM_005989.4
p.K126_P127Splc
c.379-4T>C
1 paper
NM_005989.4
p.E136K
c.406G>A
1 paper
NM_005989.4
p.S145*
c.434C>G
1 paper
NM_005989.4
p.L147L
c.439C>T
1 paper
NM_005989.4
p.A149V
c.446C>T
4 papers
NM_005989.4
p.K126_P127Splc
c.378+2T>C
1 paper
NM_005989.4
p.E120D
c.360A>C
1 paper
NM_005989.4
p.E120D
c.360A>T
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