Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B11
Variant:p.K70_H71Splc

HSD17B11

24 papers

RefSeq Summary

Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009].

Pfam Domains

adh_shortaa 37–233UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 11

HGNC Previous Symbol

DHRS8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016245.5
p.K70_H71Splc
c.210+2T>A
Surrounding Variants
1 paper
NM_016245.5
p.G49V
c.146G>T
1 paper
NM_016245.5
p.L73P
c.218T>C
1 paper
NM_016245.5
p.A78P
c.232G>C
1 paper
NM_016245.5
p.A78T
c.232G>A
1 paper
NM_016245.5
p.K106M
c.317A>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."