Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B11
Variant:p.R283Q

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
2 papers
NM_016245.5
p.R283Q
c.848G>A
Surrounding Variants
1 paper
NM_016245.5
p.R283*
c.847C>T
1 paper
NM_016245.5
p.R276C
c.826C>T
1 paper
NM_016245.5
p.*301S
c.902A>C
1 paper
NM_016245.5
p.L266insFs
c.797_798insT
1 paper
NM_016245.5
p.L266fs
c.796_797fs
1 paper
NM_016245.5
p.P260S
c.778C>T
2 papers
NM_016245.5
p.H248Y
c.742C>T
2 papers
NM_016245.5
p.V242M
c.724G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."