Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B11
Variant:p.I116I

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.I116I
c.348T>C
Surrounding Variants
1 paper
NM_016245.5
p.V118E
c.353T>A
1 paper
NM_016245.5
p.E142K
c.424G>A
1 paper
NM_016245.5
p.F149del1
c.445_446delGAA
1 paper
NM_016245.5
p.T160M
c.479C>T
1 paper
NM_016245.5
p.S172A
c.514T>G
1 paper
NM_016245.5
p.S178S
c.534G>A
1 paper
NM_016245.5
p.K106M
c.317A>T
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.L73P
c.218T>C
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