Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B1
Variant:p.D39N

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.D39N
c.115G>A
Surrounding Variants
1 paper
NM_000413.4
p.A50A
c.150C>A
1 paper
NM_000413.4
p.A54V
c.161C>T
1 paper
NM_000413.4
p.A54A
c.162A>T
1 paper
NM_000413.4
p.V33Splc
c.98-42C>T
1 paper
NM_000413.4
p.V67I
c.199G>A
1 paper
NM_000413.4
p.A74T
c.220G>A
2 papers
NM_000413.4
p.V33Splc
c.97+1G>A
1 paper
NM_000413.4
p.V33M
c.97G>A
1 paper
NM_000413.4
p.K32fs
c.94_95fs
1 paper
NM_000413.4
p.V80M
c.238G>A
1 paper
NM_000413.4
p.S28P
c.82T>C
1 paper
NM_000413.4
p.P27S
c.79C>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."