Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.K312E

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
2 papers
NM_003725.4
p.K312E
c.934A>G
Surrounding Variants
1 paper
NM_003725.4
p.P311H
c.932C>A
1 paper
NM_003725.4
p.P311_K312insAT
c.931_935ins6
1 paper
NM_003725.4
p.W310*
c.930G>A
1 paper
NM_003725.4
p.Q315*
c.943C>T
1 paper
NM_003725.4
p.A316E
c.947C>A
1 paper
NM_003725.4
p.T307insFs
c.920_921insT
1 paper
NM_003725.4
p.T307S
c.920C>G
1 paper
NM_003725.4
p.T307I
c.920C>T
1 paper
NM_003725.4
p.Y304H
c.910T>C
1 paper
NM_003725.4
p.A302P
c.904G>C
1 paper
NM_003725.4
p.T299I
c.896C>T
3 papers
NM_003725.4
p.T299A
c.895A>G
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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."