Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.G105Splc

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.G105Splc
c.314-1G>C
Surrounding Variants
1 paper
NM_003725.4
p.G105Splc
c.314-1G>T
1 paper
NM_003725.4
p.G105Splc
c.314-2A>G
2 papers
NM_003725.4
p.G105G
c.315A>T
4 papers
NM_003725.4
p.L106F
c.316C>T
1 paper
NM_003725.4
p.L106P
c.317T>C
2 papers
NM_003725.4
p.L106R
c.317T>G
1 paper
NM_003725.4
p.L106L
c.318C>A
1 paper
NM_003725.4
p.W107_N111delins
c.321_331delinsAT
1 paper
NM_003725.4
p.V110L
c.328G>C
1 paper
NM_003725.4
p.V110L
c.328G>T
2 papers
NM_003725.4
p.N111Y
c.331A>T
1 paper
NM_003725.4
p.A113T
c.337G>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."