Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.S163insFs

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.S163insFs
c.487_488insA
Surrounding Variants
1 paper
NM_003725.4
p.S163C
c.488C>G
1 paper
NM_003725.4
p.S163F
c.488C>T
1 paper
NM_003725.4
p.V162A
c.485T>C
1 paper
NM_003725.4
p.I165V
c.493A>G
1 paper
NM_003725.4
p.N161insFs
c.481dupA
2 papers
NM_003725.4
p.V160I
c.478G>A
1 paper
NM_003725.4
p.L166P
c.497T>C
1 paper
NM_003725.4
p.I159T
c.476T>C
1 paper
NM_003725.4
p.I159F
c.475A>T
1 paper
NM_003725.4
p.G167E
c.500G>A
1 paper
NM_003725.4
p.G167A
c.500G>C
2 papers
NM_003725.4
p.R158K
c.473G>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."