Varaico: Literature-Extracted Genetic Variants

Gene:OSBP2
Variant:p.S251N

OSBP2

52 papers

RefSeq Summary

The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternati...

Pfam Domains

PHaa 184–274UCSCPH domain
Oxysterol_BPaa 522–905UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein 2

HGNC Alias Symbols

KIAA1664; ORP-4; ORP4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030758.4
p.S251N
c.752G>A
Surrounding Variants
1 paper
NM_030758.4
p.E259K
c.775G>A
2 papers
NM_030758.4
p.R262Q
c.785G>A
1 paper
NM_030758.4
p.R262L
c.785G>T
1 paper
NM_030758.4
p.G226R
c.676G>C
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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."