Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL7
Variant:p.R159W

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.R159W
c.475C>T
Surrounding Variants
1 paper
NM_145798.3
p.Q136delFs
c.406delG
4 papers
NM_145798.3
p.R181W
c.541C>T
1 paper
NM_145798.3
p.K123M
c.368A>T
1 paper
NM_145798.3
p.I104M
c.312C>G
1 paper
NM_145798.3
p.T87A
c.259A>G
1 paper
NM_145798.3
p.D85_I86Splc
c.256-7C>T
2 papers
NM_145798.3
p.S217_L218delFs
c.651_652delGG
1 paper
NM_145798.3
p.S217_L218del2
c.649_653del6
1 paper
NM_145798.3
p.E73delFs
c.217_218delTC
1 paper
NM_145798.3
p.Y69H
c.205T>C
1 paper
NM_145798.3
p.W65*
c.195G>A
1 paper
NM_145798.3
p.W65*
c.194G>A
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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."