Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B10
Variant:p.K105R

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
1 paper
NM_004493.3
p.K105R
c.314A>G
Surrounding Variants
1 paper
NM_004493.3
p.K104R
c.311A>G
1 paper
NM_004493.3
p.H109Y
c.325C>T
1 paper
NM_004493.3
p.K99R
c.296A>G
1 paper
NM_004493.3
p.E112K
c.334G>A
1 paper
NM_004493.3
p.A95G
c.284C>G
1 paper
NM_004493.3
p.A95T
c.283G>A
4 papers
NM_004493.3
p.R116Q
c.347G>A
1 paper
NM_004493.3
p.A92T
c.274G>A
2 papers
NM_004493.3
p.D119_V120Splc
c.357+3A>G
1 paper
NM_004493.3
p.V87I
c.259G>A
14 papers
NM_004493.3
p.D86G
c.257A>G
1 paper
NM_004493.3
p.R84C
c.250C>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."