Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.S274A

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.S274A
c.820T>G
Surrounding Variants
1 paper
NM_003725.4
p.H276R
c.827A>G
1 paper
NM_003725.4
p.P277insFs
c.830_831insA
2 papers
NM_003725.4
p.P277L
c.830C>T
2 papers
NM_003725.4
p.R278*
c.832C>T
1 paper
NM_003725.4
p.R278Q
c.833G>A
1 paper
NM_003725.4
p.E269V
c.806A>T
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
3 papers
NM_003725.4
p.Y281H
c.841T>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."