Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.I115S

HSD17B6

983 papers

RefSeq Summary

The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, ...

Pfam Domains

adh_shortaa 30–224UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 6

HGNC Alias Symbols

HSE; RODH; SDR9C6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003725.4
p.I115S
c.344T>G
Surrounding Variants
2 papers
NM_003725.4
p.I115T
c.344T>C
2 papers
NM_003725.4
p.G114G
c.342C>G
1 paper
NM_003725.4
p.A113G
c.338C>G
1 paper
NM_003725.4
p.A113V
c.338C>T
1 paper
NM_003725.4
p.A113T
c.337G>A
1 paper
NM_003725.4
p.P118Q
c.353C>A
1 paper
NM_003725.4
p.P118P
c.354A>T
2 papers
NM_003725.4
p.N111Y
c.331A>T
1 paper
NM_003725.4
p.T120A
c.358A>G
1 paper
NM_003725.4
p.T120I
c.359C>T
1 paper
NM_003725.4
p.V110L
c.328G>C
1 paper
NM_003725.4
p.V110L
c.328G>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."