Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.V173I

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.V173I
c.517G>A
Surrounding Variants
1 paper
NM_003725.4
p.V173L
c.517G>C
1 paper
NM_003725.4
p.V173L
c.517G>T
2 papers
NM_003725.4
p.V173E
c.518T>A
1 paper
NM_003725.4
p.V173A
c.518T>C
1 paper
NM_003725.4
p.V173G
c.518T>G
1 paper
NM_003725.4
p.G174E
c.521G>A
1 paper
NM_003725.4
p.G175S
c.523G>A
5 papers
NM_003725.4
p.G175D
c.524G>A
2 papers
NM_003725.4
p.G175V
c.524G>T
1 paper
NM_003725.4
p.A170D
c.509C>A
1 paper
NM_003725.4
p.A170insFs
c.510dupT
1 paper
NM_003725.4
p.A170P
c.508G>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."