Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL10
Variant:p.N254D

OSBPL10

78 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 75–175UCSCPleckstrin homology domain
Oxysterol_BPaa 402–708UCSCOxysterol-binding protein
Oxysterol_BPaa 703–764UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 10

HGNC Previous Name

oxysterol binding protein-like 10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_017784.5
p.N254D
c.760A>G
Surrounding Variants
1 paper
NM_017784.5
p.L286V
c.856C>G
1 paper
NM_017784.5
p.L293L
c.879C>T
1 paper
NM_017784.5
p.A303A
c.909G>T
1 paper
NM_017784.5
p.P306S
c.916C>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."