Varaico: Literature-Extracted Genetic Variants

Gene:OSBP2
Variant:p.A4_P7del0

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.A4_P7del0
c.11_19del9
Surrounding Variants
1 paper
NM_030758.4
p.A5ins2
c.14_15ins6
1 paper
NM_030758.4
p.S8G
c.22A>G
1 paper
NM_030758.4
p.G11_G19delFs
c.31_55del25
1 paper
NM_030758.4
p.G11_G19del9
c.31_56del27
1 paper
NM_030758.4
p.V26A
c.77T>C
1 paper
NM_030758.4
p.A35S
c.103G>T
1 paper
NM_030758.4
p.T43T
c.129G>A
1 paper
NM_030758.4
p.P48Q
c.143C>A
1 paper
NM_030758.4
p.P52H
c.155C>A
1 paper
NM_030758.4
p.P90S
c.268C>T
1 paper
NM_030758.4
p.G115R
c.343G>A
1 paper
NM_030758.4
p.G115R
c.343G>C
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