Varaico: Literature-Extracted Genetic Variants

OSBPL6

56 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 87–185UCSCPleckstrin homology domain

Oxysterol_BPaa 570–921UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 6

HGNC Alias Symbol

ORP6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032523.4

p.T202M

c.605C>T

Surrounding Variants

1 paper

NM_032523.4

p.T204R

c.611C>G

1 paper

NM_032523.4

p.R183H

c.548G>A

1 paper

NM_032523.4

p.R183C

c.547C>T

1 paper

NM_032523.4

p.R177*

c.529C>T

1 paper

NM_032523.4

p.D170V

c.509A>T

1 paper

NM_032523.4

p.D124_I125Splc

c.372+8G>C

1 paper

NM_032523.4

p.P122P

c.366A>G

1 paper

NM_032523.4

p.V110fs

c.328_329fs

1 paper

NM_032523.4

p.F109insFs

c.327dupT

1 paper

NM_032523.4

p.Q245R

c.734A>G

1 paper

NM_032523.4

p.T81I

c.242C>T

1 paper

NM_032523.4

p.S276S

c.828C>T