Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.E269V

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.E269V
c.806A>T
Surrounding Variants
1 paper
NM_003725.4
p.E269_H270delFs
c.806_810del5
1 paper
NM_003725.4
p.M268I
c.804G>A
1 paper
NM_003725.4
p.C267*
c.801C>A
1 paper
NM_003725.4
p.C267W
c.801C>G
1 paper
NM_003725.4
p.C267Y
c.800G>A
1 paper
NM_003725.4
p.D266N
c.796G>A
1 paper
NM_003725.4
p.D266Y
c.796G>T
1 paper
NM_003725.4
p.D266delFs
c.797delA
1 paper
NM_003725.4
p.T265T
c.795T>G
1 paper
NM_003725.4
p.T265I
c.794C>T
1 paper
NM_003725.4
p.T265A
c.793A>G
1 paper
NM_003725.4
p.V264_T265insFs
c.792_793insG
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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."