Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL7
Variant:p.G703E

OSBPL7

57 papers

RefSeq Summary

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology d...

Pfam Domains

PH_8aa 48–145UCSCPleckstrin homology domain
Oxysterol_BPaa 478–829UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 7

HGNC Alias Symbols

ORP7; MGC71150

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145798.3
p.G703E
c.2108G>A
Surrounding Variants
1 paper
NM_145798.3
p.E707K
c.2119G>A
1 paper
NM_145798.3
p.K675_A676Splc
c.2026-1G>C
1 paper
NM_145798.3
p.S725*
c.2174C>G
1 paper
NM_145798.3
p.S725*
c.2174C>A
1 paper
NM_145798.3
p.P728A
c.2182C>G
1 paper
NM_145798.3
p.C674*
c.2022C>A
1 paper
NM_145798.3
p.C669S
c.2006G>C
1 paper
NM_145798.3
p.C669S
c.2005T>A
1 paper
NM_145798.3
p.S666P
c.1996T>C
1 paper
NM_145798.3
p.E749_L750del2
c.2245_2249del6
1 paper
NM_145798.3
p.Q663*
c.1987C>T
1 paper
NM_145798.3
p.R762Q
c.2285G>A
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