Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B1
Variant:p.A162A

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
3 papers
NM_000413.4
p.A162A
c.486G>A
Surrounding Variants
1 paper
NM_000413.4
p.A162T
c.484G>A
1 paper
NM_000413.4
p.G165D
c.494G>A
1 paper
NM_000413.4
p.L173R
c.518T>G
1 paper
NM_000413.4
p.V179I
c.535G>A
1 paper
NM_000413.4
p.H180Splc
c.539+50C>T
1 paper
NM_000413.4
p.G149Splc
c.445+77G>T
1 paper
NM_000413.4
p.M148T
c.443T>C
1 paper
NM_000413.4
p.V144L
c.430G>C
1 paper
NM_000413.4
p.V144L
c.430G>T
1 paper
NM_000413.4
p.V138V
c.414G>T
1 paper
NM_000413.4
p.R137S
c.409C>A
1 paper
NM_000413.4
p.K131*
c.391A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."