Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL3
Variant:p.R184H

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.R184H
c.551G>A
Surrounding Variants
1 paper
NM_015550.4
p.S186C
c.556A>T
1 paper
NM_015550.4
p.K189K
c.567G>A
2 papers
NM_015550.4
p.Q190H
c.570G>T
1 paper
NM_015550.4
p.Q190H
c.570G>C
1 paper
NM_015550.4
p.Q194E
c.580C>G
1 paper
NM_015550.4
p.S197N
c.590G>A
1 paper
NM_015550.4
p.G204D
c.611G>A
1 paper
NM_015550.4
p.R208*
c.622C>T
1 paper
NM_015550.4
p.R208Q
c.623G>A
1 paper
NM_015550.4
p.V209F
c.625G>T
1 paper
NM_015550.4
p.L211S
c.632T>C
1 paper
NM_015550.4
p.S215P
c.643T>C
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