Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.I90T

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.I90T
c.269T>C
Surrounding Variants
1 paper
NM_003725.4
p.A91D
c.272C>A
2 papers
NM_003725.4
p.E88G
c.263A>G
1 paper
NM_003725.4
p.E88K
c.262G>A
1 paper
NM_003725.4
p.E88*
c.262G>T
1 paper
NM_003725.4
p.A93S
c.277G>T
1 paper
NM_003725.4
p.A93D
c.278C>A
4 papers
NM_003725.4
p.M87V
c.259A>G
1 paper
NM_003725.4
p.K86K
c.258G>A
1 paper
NM_003725.4
p.T94N
c.281C>A
1 paper
NM_003725.4
p.T94I
c.281C>T
2 papers
NM_003725.4
p.K86E
c.256A>G
2 papers
NM_003725.4
p.Q95K
c.283C>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."