Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL2
Variant:p.V147I

OSBPL2

40 papers

RefSeq Summary

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserve...

Pfam Domains

Oxysterol_BPaa 1–381UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 2

HGNC Alias Symbols

KIAA0772; ORP-2; DFNA67

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001363878.2
p.V147I
c.439G>A
Surrounding Variants
1 paper
NM_001363878.2
p.P143S
c.427C>T
1 paper
NM_144498.4
p.V255V
c.765G>A
1 paper
NM_144498.4
p.K225Splc
c.675-13G>A
1 paper
NM_014835.5
p.R249R
c.747A>G
1 paper
NM_144498.4
p.K225Splc
c.674+732C>G
1 paper
NM_014835.5
p.G196A
c.587G>C
1 paper
NM_001363878.2
p.H105Y
c.313C>T
1 paper
NM_001363878.2
p.H105_Y109delFs
c.313_326del14
4 papers
NM_144498.4
p.L195M
c.583C>A
1 paper
NM_144498.4
p.S187insFs
c.561dupG
1 paper
NM_001363878.2
p.I90T
c.269T>C
1 paper
NM_014835.5
p.K280insFs
c.840dupA
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