Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL3
Variant:p.G43E

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.G43E
c.128G>A
Surrounding Variants
2 papers
NM_015550.4
p.G43R
c.127G>C
2 papers
NM_015550.4
p.G43R
c.127G>A
1 paper
NM_015550.4
p.V37_V38insFs
c.109_112dup4
3 papers
NM_015550.4
p.Q49*
c.145C>T
1 paper
NM_015550.4
p.E50Q
c.148G>C
1 paper
NM_015550.4
p.E36D
c.108A>T
1 paper
NM_015550.4
p.E36D
c.108A>C
1 paper
NM_015550.4
p.E36K
c.106G>A
1 paper
NM_015550.4
p.W35C
c.105G>T
1 paper
NM_015550.4
p.W35C
c.105G>C
1 paper
NM_015550.4
p.P51A
c.151C>G
1 paper
NM_015550.4
p.S34I
c.101G>T
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