Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.Y4_F8insFs

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.Y4_F8insFs
c.12_22dup11
Surrounding Variants
1 paper
NM_003725.4
p.Y4H
c.10T>C
1 paper
NM_003725.4
p.Y4insFs
c.10_11insC
1 paper
NM_003725.4
p.L3L
c.9C>T
1 paper
NM_003725.4
p.L5L
c.13C>T
1 paper
NM_003725.4
p.L3H
c.8T>A
1 paper
NM_003725.4
p.L3R
c.8T>G
1 paper
NM_003725.4
p.L5R
c.14T>G
1 paper
NM_003725.4
p.L5L
c.15G>A
2 papers
NM_003725.4
p.L5L
c.15G>C
3 papers
NM_003725.4
p.A6T
c.16G>A
2 papers
NM_003725.4
p.W2*
c.5G>A
1 paper
NM_003725.4
p.A6A
c.18G>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."