Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.D38A

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.D38A
c.113A>C
Surrounding Variants
1 paper
NM_003725.4
p.D38G
c.113A>G
3 papers
NM_003725.4
p.D38N
c.112G>A
1 paper
NM_003725.4
p.D38insFs
c.113dupA
1 paper
NM_003725.4
p.D38Y
c.112G>T
1 paper
NM_003725.4
p.C37C
c.111T>C
1 paper
NM_003725.4
p.S39*
c.116C>A
1 paper
NM_003725.4
p.S39W
c.116C>G
1 paper
NM_003725.4
p.C37S
c.110G>C
1 paper
NM_003725.4
p.C37S
c.109T>A
1 paper
NM_003725.4
p.C37R
c.109T>C
1 paper
NM_003725.4
p.G36G
c.108C>A
1 paper
NM_003725.4
p.G36G
c.108C>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."