Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B1
Variant:p.Q124L

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.Q124L
c.371A>T
Surrounding Variants
1 paper
NM_000413.4
p.M122V
c.364A>G
1 paper
NM_000413.4
p.V117V
c.351A>G
1 paper
NM_000413.4
p.K131*
c.391A>T
1 paper
NM_000413.4
p.D113Y
c.337G>T
1 paper
NM_000413.4
p.R137S
c.409C>A
1 paper
NM_000413.4
p.V138V
c.414G>T
1 paper
NM_000413.4
p.A109T
c.325G>A
1 paper
NM_000413.4
p.D106N
c.316G>A
2 papers
NM_000413.4
p.E105*
c.313G>T
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.G104A
c.311G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."