Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B2
Variant:p.L250P

HSD17B2

71 papers

Pfam Domains

adh_shortaa 83–278UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 2

HGNC Alias Symbols

HSD17; SDR9C2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002153.3
p.L250P
c.749T>C
Surrounding Variants
2 papers
NM_002153.3
p.Y232*
c.696T>A
2 papers
NM_002153.3
p.Y232*
c.696T>G
3 papers
NM_002153.3
p.M226V
c.676A>G
1 paper
NM_002153.3
p.G222Splc
c.665-710C>T
1 paper
NM_002153.3
p.N268Splc
c.802+1351C>T
1 paper
NM_002153.3
p.G222Splc
c.665-1517C>G
1 paper
NM_002153.3
p.N268Splc
c.802+2080G>T
1 paper
NM_002153.3
p.N268Splc
c.802+2272C>A
1 paper
NM_002153.3
p.N268Splc
c.802+3450C>T
1 paper
NM_002153.3
p.N268Splc
c.803-3483C>G
1 paper
NM_002153.3
p.N268Splc
c.803-3337C>G
1 paper
NM_002153.3
p.N268Splc
c.803-2903C>T
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."