Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL2
Variant:p.H113D

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_144498.4
p.H113D
c.337C>G
Surrounding Variants
1 paper
NM_144498.4
p.M111I
c.333G>A
1 paper
NM_144498.4
p.M111I
c.333G>C
1 paper
NM_144498.4
p.M111I
c.333G>T
1 paper
NM_144498.4
p.Q105*
c.313C>T
1 paper
NM_144498.4
p.N98insFs
c.293_294insT
1 paper
NM_144498.4
p.T92M
c.275C>T
1 paper
NM_001363878.2
p.S40Y
c.119C>A
1 paper
NM_144498.4
p.A140V
c.419C>T
2 papers
NM_144498.4
p.E158_T159del2
c.472_476del6
1 paper
NM_001363878.2
p.I90T
c.269T>C
1 paper
NM_144498.4
p.S187insFs
c.561dupG
4 papers
NM_144498.4
p.L195M
c.583C>A
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