Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL2
Variant:p.M416I

OSBPL2

40 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

Oxysterol_BPaa 1–381UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 2

HGNC Alias Symbols

KIAA0772; ORP-2; DFNA67

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144498.4
p.M416I
c.1248G>C
Surrounding Variants
1 paper
NM_144498.4
p.M416I
c.1248G>A
1 paper
NM_144498.4
p.M416I
c.1248G>T
1 paper
NM_144498.4
p.R409H
c.1226G>A
1 paper
NM_014835.5
p.E416E
c.1248G>A
1 paper
NM_144498.4
p.R431K
c.1292G>A
1 paper
NM_144498.4
p.R369Q
c.1106G>A
1 paper
NM_144498.4
p.T353P
c.1057A>C
1 paper
NM_144498.4
p.D342N
c.1024G>A
1 paper
NM_144498.4
p.L332_D333Splc
c.997-21C>G
1 paper
NM_144498.4
p.P460P
c.1380C>T
1 paper
NM_014835.5
p.K280insFs
c.840dupA
1 paper
NM_014835.5
p.R249R
c.747A>G
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