Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B10
Variant:p.Q165H

HSD17B10

157 papers

RefSeq Summary

This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of ...

Pfam Domains

adh_shortaa 11–213UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 10

HGNC Previous Symbols

HADH2; MRXS10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_004493.3
p.Q165H
c.495A>C
Surrounding Variants
11 papers
NM_004493.3
p.Q165H
c.495A>T
1 paper
NM_004493.3
p.Y168C
c.503A>G
1 paper
NM_004493.3
p.G173R
c.517G>C
1 paper
NM_004493.3
p.G173R
c.517G>A
1 paper
NM_004493.3
p.I175T
c.524T>C
2 papers
NM_004493.3
p.I175M
c.525A>G
4 papers
NM_004493.3
p.V176M
c.526G>A
1 paper
NM_004493.3
p.A183T
c.547G>A
1 paper
NM_004493.3
p.D185_A187Fs
c.554_559delinsTGTGFs
1 paper
NM_004493.3
p.P188S
c.562C>T
1 paper
NM_004493.3
p.P188L
c.563C>T
1 paper
NM_004493.3
p.G190D
c.569G>A
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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."