Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL3
Variant:p.L482H

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.L482H
c.1445T>A
Surrounding Variants
1 paper
NM_015550.4
p.L482F
c.1444C>T
1 paper
NM_015550.4
p.D470Y
c.1408G>T
1 paper
NM_015550.4
p.R495I
c.1484G>T
1 paper
NM_015550.4
p.E467K
c.1399G>A
1 paper
NM_015550.4
p.S464S
c.1392A>T
1 paper
NM_015550.4
p.S462N
c.1385G>A
2 papers
NM_015550.4
p.L458V
c.1372C>G
1 paper
NM_015550.4
p.A454T
c.1360G>A
1 paper
NM_015550.4
p.S440G
c.1318A>G
1 paper
NM_015550.4
p.S437C
c.1310C>G
1 paper
NM_015550.4
p.R430P
c.1289G>C
1 paper
NM_015550.4
p.N429S
c.1286A>G
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