Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.S147insFs

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.S147insFs
c.440_441insT
Surrounding Variants
1 paper
NM_003725.4
p.S147R
c.441C>A
2 papers
NM_003725.4
p.L146*
c.437T>A
1 paper
NM_003725.4
p.M148T
c.443T>C
1 paper
NM_003725.4
p.M148R
c.443T>G
2 papers
NM_003725.4
p.T145I
c.434C>T
1 paper
NM_003725.4
p.L149_P150delFs
c.447_448delTC
1 paper
NM_003725.4
p.T145A
c.433A>G
1 paper
NM_003725.4
p.V144_T145insFs
c.432_433ins8
1 paper
NM_003725.4
p.Q143_V144Fs
c.429_432delinsGGTFs
1 paper
NM_003725.4
p.V144M
c.430G>A
1 paper
NM_003725.4
p.Q143E
c.427C>G
5 papers
NM_003725.4
p.L151L
c.453G>A
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