Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL3

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
1–12 of 261 variants
3 papers
NM_015550.4
p.Q49*
c.145C>T
3 papers
NM_015550.4
p.R148H
c.443G>A
3 papers
NM_015550.4
p.H733Q
c.2199T>G
3 papers
NM_015550.4
p.H733Q
c.2199T>A
2 papers
NM_015550.4
p.S16L
c.47C>T
2 papers
NM_015550.4
p.R31*
c.91C>T
2 papers
NM_015550.4
p.G43R
c.127G>C
2 papers
NM_015550.4
p.G43R
c.127G>A
2 papers
NM_015550.4
p.Q190H
c.570G>T
2 papers
NM_015550.4
p.R277Q
c.830G>A
2 papers
NM_015550.4
p.S278F
c.833C>T
2 papers
NM_015550.4
p.L458V
c.1372C>G
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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."