Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL3
Variant:p.P17L

OSBPL3

77 papers

RefSeq Summary

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserve...

Pfam Domains

PH_8aa 52–150UCSCPleckstrin homology domain
Oxysterol_BPaa 527–874UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 3

HGNC Previous Symbol

OSBP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015550.4
p.P17L
c.50C>T
Surrounding Variants
2 papers
NM_015550.4
p.S16L
c.47C>T
1 paper
NM_015550.4
p.S18*
c.53C>G
1 paper
NM_015550.4
p.S25F
c.74C>T
1 paper
NM_015550.4
p.G9S
c.25G>A
1 paper
NM_015550.4
p.N7I
c.20A>T
1 paper
NM_015550.4
p.G29V
c.86G>T
1 paper
NM_015550.4
p.S30R
c.88A>C
1 paper
NM_015550.4
p.S30R
c.90T>G
1 paper
NM_015550.4
p.S30R
c.90T>A
1 paper
NM_015550.4
p.D4N
c.10G>A
2 papers
NM_015550.4
p.R31*
c.91C>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."