Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL3
Variant:p.V747_R749delFs

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.V747_R749delFs
c.2240_2247del8
Surrounding Variants
1 paper
NM_015550.4
p.R749Q
c.2246G>A
2 papers
NM_015550.4
p.H748N
c.2242C>A
1 paper
NM_015550.4
p.V747fs
c.2239_2240fs
1 paper
NM_015550.4
p.V747I
c.2239G>A
2 papers
NM_015550.4
p.A746V
c.2237C>T
1 paper
NM_015550.4
p.W754S
c.2261G>C
1 paper
NM_015550.4
p.G744E
c.2231G>A
2 papers
NM_015550.4
p.Y759C
c.2276A>G
1 paper
NM_015550.4
p.G762S
c.2284G>A
1 paper
NM_015550.4
p.S765F
c.2294C>T
3 papers
NM_015550.4
p.H733Q
c.2199T>G
3 papers
NM_015550.4
p.H733Q
c.2199T>A
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