Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B10
Variant:p.Q138R

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.Q138R
c.413A>G
Surrounding Variants
1 paper
NM_004493.3
p.E140delFs
c.419delT
1 paper
NM_004493.3
p.E135*
c.403G>T
1 paper
NM_004493.3
p.D142E
c.426C>A
36 papers
NM_004493.3
p.R130C
c.388C>T
1 paper
NM_004493.3
p.R147C
c.439C>T
1 paper
NM_004493.3
p.N127T
c.380A>C
1 paper
NM_004493.3
p.I150L
c.448A>C
3 papers
NM_004493.3
p.T125I
c.374C>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
5 papers
NM_004493.3
p.A154T
c.460G>A
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