Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B10
Variant:p.Q238R

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.Q238R
c.713A>G
Surrounding Variants
1 paper
NM_004493.3
p.A239V
c.716C>T
1 paper
NM_004493.3
p.N243_P244insFs
c.729_730insTT
1 paper
NM_004493.3
p.F245S
c.734T>C
19 papers
NM_004493.3
p.N247S
c.740A>G
1 paper
NM_004493.3
p.D229N
c.685G>A
15 papers
NM_004493.3
p.E249Q
c.745G>C
1 paper
NM_004493.3
p.L227R
c.680T>G
1 paper
NM_004493.3
p.V250I
c.748G>A
15 papers
NM_004493.3
p.R226Q
c.677G>A
1 paper
NM_004493.3
p.I251M
c.753C>G
1 paper
NM_004493.3
p.R252insFs
c.754_755insCT
1 paper
NM_004493.3
p.A256T
c.766G>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."