Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL3
Variant:p.R148H

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
3 papers
NM_015550.4
p.R148H
c.443G>A
Surrounding Variants
1 paper
NM_015550.4
p.Q149E
c.445C>G
1 paper
NM_015550.4
p.R145T
c.434G>C
1 paper
NM_015550.4
p.I152F
c.454A>T
1 paper
NM_015550.4
p.L141P
c.422T>C
1 paper
NM_015550.4
p.V138V
c.414A>T
1 paper
NM_015550.4
p.F163I
c.487T>A
1 paper
NM_015550.4
p.K129E
c.385A>G
1 paper
NM_015550.4
p.D170fs
c.508_509fs
1 paper
NM_015550.4
p.G174V
c.521G>T
1 paper
NM_015550.4
p.S181G
c.541A>G
1 paper
NM_015550.4
p.R182M
c.545G>T
1 paper
NM_015550.4
p.K183*
c.547A>T
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