Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.L138R

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.L138R
c.413T>G
Surrounding Variants
1 paper
NM_003725.4
p.L138L
c.414C>G
1 paper
NM_003725.4
p.L138F
c.412C>T
1 paper
NM_003725.4
p.I139S
c.416T>G
1 paper
NM_003725.4
p.N137D
c.409A>G
1 paper
NM_003725.4
p.G140R
c.418G>C
1 paper
NM_003725.4
p.V136M
c.406G>A
1 paper
NM_003725.4
p.V136insFs
c.406_407insT
1 paper
NM_003725.4
p.K135R
c.404A>G
1 paper
NM_003725.4
p.K135Q
c.403A>C
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.Q143E
c.427C>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."