Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B10
Variant:p.G161D

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.G161D
c.482G>A
Surrounding Variants
1 paper
NM_004493.3
p.A154_G161Fs
c.462_482delinsTCCTCFs
5 papers
NM_004493.3
p.A158V
c.473C>T
1 paper
NM_004493.3
p.A158D
c.473C>A
4 papers
NM_004493.3
p.A157V
c.470C>T
1 paper
NM_004493.3
p.A154V
c.461C>T
5 papers
NM_004493.3
p.A154T
c.460G>A
1 paper
NM_004493.3
p.I150L
c.448A>C
1 paper
NM_004493.3
p.R147C
c.439C>T
1 paper
NM_004493.3
p.D142E
c.426C>A
1 paper
NM_004493.3
p.E140delFs
c.419delT
1 paper
NM_004493.3
p.Q138R
c.413A>G
1 paper
NM_004493.3
p.E135*
c.403G>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."