Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B8
Variant:p.V210L

HSD17B8

99 papers

RefSeq Summary

In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inac...

Pfam Domains

adh_short_C2aa 18–260UCSCEnoyl-(Acyl carrier protein) reductase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 8

HGNC Previous Symbol

FABGL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014234.5
p.V210L
c.628G>C
Surrounding Variants
1 paper
NM_014234.5
p.V210L
c.628G>T
1 paper
NM_014234.5
p.R189Splc
c.567-1G>A
1 paper
NM_014234.5
p.G175R
c.523G>A
1 paper
NM_014234.5
p.G175R
c.523G>C
1 paper
NM_014234.5
p.K173E
c.517A>G
1 paper
NM_014234.5
p.S172A
c.514T>G
1 paper
NM_014234.5
p.Y169fs
c.505_506fs
1 paper
NM_014234.5
p.Y169delFs
c.505_506delTA
1 paper
NM_014234.5
p.Y169del1
c.505_506delTAT
1 paper
NM_014234.5
p.L227S
c.680T>C
2 papers
NM_014234.5
p.V158L
c.472G>C
2 papers
NM_014234.5
p.V158L
c.472G>T
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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."