Varaico: Literature-Extracted Genetic Variants

Gene:AKR1D1
Variant:p.V77L

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.V77L
c.229G>C
Surrounding Variants
2 papers
NM_005989.4
p.V77L
c.229G>T
1 paper
NM_005989.4
p.R78Q
c.233G>A
1 paper
NM_005989.4
p.G75E
c.224G>A
1 paper
NM_005989.4
p.E80K
c.238G>A
1 paper
NM_005989.4
p.A73E
c.218C>A
2 papers
NM_005989.4
p.D81V
c.242A>T
1 paper
NM_005989.4
p.E66K
c.196G>A
1 paper
NM_005989.4
p.E63K
c.187G>A
1 paper
NM_005989.4
p.Y58*
c.174C>A
1 paper
NM_005989.4
p.Y58*
c.174C>G
2 papers
NM_005989.4
p.Y58F
c.173A>T
1 paper
NM_005989.4
p.D53A
c.158A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."