Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B10
Variant:p.L205M

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.L205M
c.613C>A
Surrounding Variants
1 paper
NM_004493.3
p.P204L
c.611C>T
1 paper
NM_004493.3
p.L209F
c.625C>T
16 papers
NM_004493.3
p.P210S
c.628C>T
2 papers
NM_004493.3
p.P210A
c.628C>G
7 papers
NM_004493.3
p.K212E
c.634A>G
1 paper
NM_004493.3
p.C214R
c.640T>C
1 paper
NM_004493.3
p.C214Y
c.641G>A
2 papers
NM_004493.3
p.Q220H
c.660A>T
2 papers
NM_004493.3
p.Q220H
c.660A>C
15 papers
NM_004493.3
p.R226Q
c.677G>A
1 paper
NM_004493.3
p.L227R
c.680T>G
1 paper
NM_004493.3
p.D229N
c.685G>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."