Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B1
Variant:p.L7P

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.L7P
c.20T>C
Surrounding Variants
1 paper
NM_000413.4
p.L7L
c.21C>T
1 paper
NM_000413.4
p.G10S
c.28G>A
1 paper
NM_000413.4
p.R3R
c.9C>T
1 paper
NM_000413.4
p.R3H
c.8G>A
1 paper
NM_000413.4
p.C11C
c.33T>C
2 papers
NM_000413.4
p.S12P
c.34T>C
2 papers
NM_000413.4
p.A2V
c.5C>T
1 paper
NM_000413.4
p.A2T
c.4G>A
1 paper
NM_000413.4
p.I15N
c.44T>A
2 papers
NM_000413.4
p.V21A
c.62T>C
1 paper
NM_000413.4
p.P27S
c.79C>T
1 paper
NM_000413.4
p.S28P
c.82T>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."