Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B7
Variant:p.Y296Y

HSD17B7

37 papers

RefSeq Summary

HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynt...

Pfam Domains

adh_shortaa 3–236UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 7

HGNC Alias Symbol

SDR37C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016371.4
p.Y296Y
c.888C>T
Surrounding Variants
1 paper
NM_016371.4
p.L268_V269Splc
c.804+123A>G
1 paper
NM_016371.4
p.L250F
c.748C>T
1 paper
NM_016371.4
p.L249_L250Splc
c.747+189G>C
1 paper
NM_016371.4
p.A226T
c.676G>A
1 paper
NM_016371.4
p.L216F
c.646C>T
1 paper
NM_016371.4
p.L181L
c.543C>A
3 papers
NM_016371.4
p.S173N
c.518G>A
1 paper
NM_016371.4
p.L166F
c.496C>T
1 paper
NM_016371.4
p.P155L
c.464C>T
1 paper
NM_016371.4
p.L153L
c.459G>A
3 papers
NM_016371.4
p.K321E
c.961A>G
1 paper
NM_016371.4
p.C340R
c.1018T>C
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