Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B10
Variant:p.R130C

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
36 papers
NM_004493.3
p.R130C
c.388C>T
Surrounding Variants
1 paper
NM_004493.3
p.N127T
c.380A>C
3 papers
NM_004493.3
p.T125I
c.374C>T
1 paper
NM_004493.3
p.E135*
c.403G>T
1 paper
NM_004493.3
p.G124G
c.372C>T
2 papers
NM_004493.3
p.M123L
c.367A>T
2 papers
NM_004493.3
p.M123L
c.367A>C
1 paper
NM_004493.3
p.L122L
c.366C>A
2 papers
NM_004493.3
p.L122F
c.364C>T
20 papers
NM_004493.3
p.L122V
c.364C>G
1 paper
NM_004493.3
p.Q138R
c.413A>G
1 paper
NM_004493.3
p.D119_V120Splc
c.358-1G>C
1 paper
NM_004493.3
p.E140delFs
c.419delT
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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."