Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL7
Variant:p.R250delFs

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.R250delFs
c.749_750delGC
Surrounding Variants
1 paper
NM_145798.3
p.D261N
c.781G>A
1 paper
NM_145798.3
p.R265W
c.793C>T
1 paper
NM_145798.3
p.L306M
c.916C>A
1 paper
NM_145798.3
p.L306R
c.917T>G
1 paper
NM_145798.3
p.A307S
c.919G>T
1 paper
NM_145798.3
p.A320T
c.958G>A
1 paper
NM_145798.3
p.M323V
c.967A>G
1 paper
NM_145798.3
p.S217_L218del2
c.649_653del6
2 papers
NM_145798.3
p.S217_L218delFs
c.651_652delGG
1 paper
NM_145798.3
p.D360N
c.1078G>A
4 papers
NM_145798.3
p.R181W
c.541C>T
1 paper
NM_145798.3
p.Q390R
c.1169A>G
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