Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL2
Variant:p.H60_R61delFs

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
2 papers
NM_144498.4
p.H60_R61delFs
c.180_181delCA
Surrounding Variants
1 paper
NM_144498.4
p.H60fs
c.178_179fs
3 papers
NM_144498.4
p.H60fs
c.178_179fs
1 paper
NM_144498.4
p.Q53R
c.158A>G
1 paper
NM_144498.4
p.Q53fs
c.157_158fs
5 papers
NM_144498.4
p.Q53delFs
c.158_159delAA
9 papers
NM_144498.4
p.Q53fs
c.157_158fs
4 papers
NM_144498.4
p.P51_S52delFs
c.153_154delCT
6 papers
NM_144498.4
p.R50fs
c.148_149fs
5 papers
NM_144498.4
p.T47_G48delFs
c.141_142delTG
1 paper
NM_144498.4
p.S19F
c.56C>T
1 paper
NM_144498.4
p.G13Splc
c.38-7C>T
1 paper
NM_144498.4
p.N2insFs
c.6dupC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."