Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL7
Variant:p.P462S

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.P462S
c.1384C>T
Surrounding Variants
1 paper
NM_145798.3
p.P461P
c.1383A>G
1 paper
NM_145798.3
p.R465C
c.1393C>T
1 paper
NM_145798.3
p.R509W
c.1525C>T
1 paper
NM_145798.3
p.D528N
c.1582G>A
1 paper
NM_145798.3
p.E565K
c.1693G>A
1 paper
NM_145798.3
p.A406del1
c.1216_1217delGGC
1 paper
NM_145798.3
p.S392N
c.1175G>A
1 paper
NM_145798.3
p.Q390R
c.1169A>G
1 paper
NM_145798.3
p.D360N
c.1078G>A
1 paper
NM_145798.3
p.M323V
c.967A>G
1 paper
NM_145798.3
p.A320T
c.958G>A
1 paper
NM_145798.3
p.A307S
c.919G>T
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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."