Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.V84_T85delFs

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.V84_T85delFs
c.252_253delTA
Surrounding Variants
2 papers
NM_003725.4
p.V84D
c.251T>A
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
1 paper
NM_003725.4
p.V84_T85delFs
c.251_255del5
1 paper
NM_003725.4
p.V84_M87del0
c.252_260del9
1 paper
NM_003725.4
p.V84V
c.252T>G
1 paper
NM_003725.4
p.D83G
c.248A>G
1 paper
NM_003725.4
p.T85I
c.254C>T
2 papers
NM_003725.4
p.K86E
c.256A>G
1 paper
NM_003725.4
p.D83_M87delFs
c.249_259del11
1 paper
NM_003725.4
p.L82L
c.244C>T
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