Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.M87V

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
4 papers
NM_003725.4
p.M87V
c.259A>G
Surrounding Variants
1 paper
NM_003725.4
p.K86K
c.258G>A
2 papers
NM_003725.4
p.K86E
c.256A>G
1 paper
NM_003725.4
p.E88K
c.262G>A
1 paper
NM_003725.4
p.E88*
c.262G>T
2 papers
NM_003725.4
p.E88G
c.263A>G
1 paper
NM_003725.4
p.T85I
c.254C>T
1 paper
NM_003725.4
p.V84V
c.252T>G
2 papers
NM_003725.4
p.V84D
c.251T>A
1 paper
NM_003725.4
p.V84_T85delFs
c.252_253delTA
1 paper
NM_003725.4
p.V84_K86delFs
c.252_258del7
1 paper
NM_003725.4
p.V84_M87delFs
c.252_261del10
3 papers
NM_003725.4
p.V84I
c.250G>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."