Varaico: Literature-Extracted Genetic Variants

OSBPL9

35 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

PHaa 3–99UCSCPH domain

Oxysterol_BPaa 377–677UCSCOxysterol-binding protein

Oxysterol_BPaa 673–730UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 9

HGNC Previous Name

oxysterol binding protein-like 9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024586.6

p.V374I

c.1120G>A

Surrounding Variants

2 papers

NM_024586.6

p.L403V

c.1207C>G

1 paper

NM_024586.6

p.D313N

c.937G>A

1 paper

NM_024586.6

p.R310C

c.928C>T

2 papers

NM_024586.6

p.T282I

c.845C>T

1 paper

NM_024586.6

p.L270V

c.808C>G

1 paper

NM_148909.4

p.P276L

c.827C>T

1 paper

NM_024586.6

p.P265L

c.794C>T

1 paper

NM_024586.6

p.C464F

c.1391G>T

1 paper

NM_024586.6

p.P469P

c.1407A>T

1 paper

NM_024586.6

p.K489delFs

c.1465delA

1 paper

NM_024586.6

p.K489fs

c.1465_1466fs