Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.H16L

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.H16L
c.47A>T
Surrounding Variants
1 paper
NM_003725.4
p.H16P
c.47A>C
1 paper
NM_003725.4
p.H16Q
c.48C>A
1 paper
NM_003725.4
p.H16Y
c.46C>T
1 paper
NM_003725.4
p.L15L
c.45G>A
1 paper
NM_003725.4
p.H16insFs
c.46_47insC
1 paper
NM_003725.4
p.W17*
c.50G>A
1 paper
NM_003725.4
p.L15P
c.44T>C
1 paper
NM_003725.4
p.L15M
c.43C>A
2 papers
NM_003725.4
p.L15V
c.43C>G
1 paper
NM_003725.4
p.L15L
c.43C>T
2 papers
NM_003725.4
p.L14F
c.40C>T
1 paper
NM_003725.4
p.Y13*
c.39C>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."