Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.L69L

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.L69L
c.205C>T
Surrounding Variants
2 papers
NM_003725.4
p.L69L
c.207G>A
1 paper
NM_003725.4
p.Q68E
c.202C>G
2 papers
NM_003725.4
p.R70K
c.209G>A
1 paper
NM_003725.4
p.A66A
c.198C>A
2 papers
NM_003725.4
p.G71A
c.212G>C
1 paper
NM_003725.4
p.A66D
c.197C>A
2 papers
NM_003725.4
p.G71G
c.213C>G
1 paper
NM_003725.4
p.Q72K
c.214C>A
1 paper
NM_003725.4
p.A66T
c.196G>A
2 papers
NM_003725.4
p.Q72R
c.215A>G
5 papers
NM_003725.4
p.G65E
c.194G>A
1 paper
NM_003725.4
p.G65A
c.194G>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."