Varaico: Literature-Extracted Genetic Variants

Gene:AKR1D1
Variant:p.G184R

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.G184R
c.550G>A
Surrounding Variants
1 paper
NM_005989.4
p.G184R
c.550G>C
1 paper
NM_005989.4
p.L180P
c.539T>C
1 paper
NM_005989.4
p.F171fs
c.511_512fs
1 paper
NM_005989.4
p.N170S
c.509A>G
3 papers
NM_005989.4
p.F171delFs
c.511delT
1 paper
NM_005989.4
p.Q193_V194Splc
c.579+29T>G
1 paper
NM_005989.4
p.K158E
c.472A>G
1 paper
NM_005989.4
p.C157F
c.470G>T
6 papers
NM_005989.4
p.A156G
c.467C>G
1 paper
NM_005989.4
p.E152_A153Splc
c.457-116G>T
3 papers
NM_005989.4
p.Q193_V194Splc
c.580-14A>G
4 papers
NM_005989.4
p.Q193_V194Splc
c.580-13T>A
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