Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B1
Variant:p.A314T

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.A314T
c.940G>A
Surrounding Variants
11 papers
NM_000413.4
p.G313S
c.937G>A
1 paper
NM_001330219.3
p.V316insFs
c.947dupT
2 papers
NM_000413.4
p.G316insFs
c.947dupG
1 paper
NM_000413.4
p.G311G
c.933G>A
1 paper
NM_000413.4
p.P318delFs
c.953delC
1 paper
NM_000413.4
p.D308A
c.923A>C
1 paper
NM_000413.4
p.A325A
c.975C>G
1 paper
NM_000413.4
p.P327S
c.979C>T
1 paper
NM_000413.4
p.K291_G295del0
c.873_884del12
1 paper
NM_000413.4
p.K291_G295del5
c.871_884del15
1 paper
NM_000413.4
p.P289delFs
c.867delG
1 paper
NM_000413.4
p.G286Fs
c.857_858delinsAFs
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