Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.Q28K

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.Q28K
c.82C>A
Surrounding Variants
1 paper
NM_003725.4
p.Q28R
c.83A>G
1 paper
NM_003725.4
p.L27L
c.81C>A
1 paper
NM_003725.4
p.L27_Q28insFs
c.81_82ins5
1 paper
NM_003725.4
p.Q28H
c.84A>C
3 papers
NM_003725.4
p.Q28H
c.84A>T
1 paper
NM_003725.4
p.L27R
c.80T>G
3 papers
NM_003725.4
p.L27V
c.79C>G
1 paper
NM_003725.4
p.L27F
c.79C>T
1 paper
NM_003725.4
p.D29N
c.85G>A
1 paper
NM_003725.4
p.D29Y
c.85G>T
1 paper
NM_003725.4
p.D29A
c.86A>C
2 papers
NM_003725.4
p.H26Q
c.78C>A
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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."