Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL7

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
1–12 of 63 variants
4 papers
NM_145798.3
p.R181W
c.541C>T
2 papers
NM_145798.3
p.S217_L218delFs
c.651_652delGG
2 papers
NM_145798.3
p.I651_E652del2
c.1951_1955del6
1 paper
NM_145798.3
p.E28K
c.82G>A
1 paper
NM_145798.3
p.M46I
c.138G>T
1 paper
NM_145798.3
p.M46I
c.138G>C
1 paper
NM_145798.3
p.M46I
c.138G>A
1 paper
NM_145798.3
p.P47A
c.139C>G
1 paper
NM_145798.3
p.L55I
c.163C>A
1 paper
NM_145798.3
p.W65*
c.194G>A
1 paper
NM_145798.3
p.W65*
c.195G>A
1 paper
NM_145798.3
p.Y69H
c.205T>C
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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."