Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.V32I

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.V32I
c.94G>A
Surrounding Variants
2 papers
NM_003725.4
p.V32D
c.95T>A
1 paper
NM_003725.4
p.Y31*
c.93T>A
1 paper
NM_003725.4
p.V32A
c.95T>C
1 paper
NM_003725.4
p.Y31S
c.92A>C
1 paper
NM_003725.4
p.V32V
c.96C>A
2 papers
NM_003725.4
p.F33S
c.98T>C
1 paper
NM_003725.4
p.F33C
c.98T>G
1 paper
NM_003725.4
p.K30M
c.89A>T
1 paper
NM_003725.4
p.I34V
c.100A>G
2 papers
NM_003725.4
p.D29E
c.87C>A
1 paper
NM_003725.4
p.D29E
c.87C>G
1 paper
NM_003725.4
p.D29A
c.86A>C
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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."