Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.L125L

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.L125L
c.375G>C
Surrounding Variants
1 paper
NM_003725.4
p.L125V
c.373C>G
1 paper
NM_003725.4
p.D129A
c.386A>C
1 paper
NM_003725.4
p.L121S
c.362T>C
1 paper
NM_003725.4
p.S130F
c.389C>T
1 paper
NM_003725.4
p.M131L
c.391A>T
1 paper
NM_003725.4
p.T120I
c.359C>T
1 paper
NM_003725.4
p.T120A
c.358A>G
1 paper
NM_003725.4
p.P118P
c.354A>T
1 paper
NM_003725.4
p.P118Q
c.353C>A
1 paper
NM_003725.4
p.L134H
c.401T>A
1 paper
NM_003725.4
p.L134P
c.401T>C
1 paper
NM_003725.4
p.K135Q
c.403A>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."