Varaico: Literature-Extracted Genetic Variants

Gene:AKR1D1
Variant:p.C196fs

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.C196fs
c.586_587fs
Surrounding Variants
4 papers
NM_005989.4
p.C196delFs
c.587delG
17 papers
NM_005989.4
p.P198L
c.593C>T
1 paper
NM_005989.4
p.Q193_V194Splc
c.580-1G>A
1 paper
NM_005989.4
p.Y199F
c.596A>T
4 papers
NM_005989.4
p.Q193_V194Splc
c.580-13T>A
3 papers
NM_005989.4
p.Q193_V194Splc
c.580-14A>G
3 papers
NM_005989.4
p.L205delFs
c.614delT
2 papers
NM_005989.4
p.L205fs
c.613_614fs
1 paper
NM_005989.4
p.Q211*
c.631C>T
1 paper
NM_005989.4
p.S220R
c.658A>C
9 papers
NM_005989.4
p.P221L
c.662C>T
11 papers
NM_005989.4
p.G223E
c.668G>A
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