Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL8
Variant:p.E2insFs

OSBPL8

56 papers

RefSeq Summary

This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds ...

Pfam Domains

PHaa 149–265UCSCPH domain
Oxysterol_BPaa 406–753UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 8

HGNC Alias Symbols

OSBP10; ORP8; MST120; MSTP120

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020841.5
p.E2insFs
c.5_6insT
Surrounding Variants
1 paper
NM_020841.5
p.S14L
c.41C>T
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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."