Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B1
Variant:p.E239_V240Splc

HSD17B1

95 papers

RefSeq Summary

This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays...

Pfam Domains

adh_shortaa 4–201UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 1

HGNC Previous Symbols

EDHB17; EDH17B2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000413.4
p.E239_V240Splc
c.718-1G>C
NM_001330219.3
p.E240_V241Splc
c.721-1G>C
Surrounding Variants
1 paper
NM_000413.4
p.E239_V240Splc
c.718-8C>T
1 paper
NM_000413.4
p.T243T
c.729C>T
1 paper
NM_000413.4
p.P250L
c.749C>T
1 paper
NM_000413.4
p.Y254H
c.760T>C
3 papers
NM_000413.4
p.Y254D
c.760T>G
1 paper
NM_000413.4
p.Y254F
c.761A>T
1 paper
NM_000413.4
p.R259H
c.776G>A
1 paper
NM_000413.4
p.P262L
c.785C>T
5 papers
NM_000413.4
p.A238V
c.713C>T
1 paper
NM_000413.4
p.F227C
c.680T>G
1 paper
NM_000413.4
p.R282W
c.844C>T
1 paper
NM_000413.4
p.Q225_V226delFs
c.674_677del4
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