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.C464F

c.1391G>T

Surrounding Variants

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

1 paper

NM_024586.6

p.A510G

c.1529C>G

1 paper

NM_024586.6

p.S527*

c.1580C>A

1 paper

NM_024586.6

p.S527*

c.1580C>G

1 paper

NM_148909.4

p.I615_T616insTAA

c.1843_1847ins9

2 papers

NM_024586.6

p.L403V

c.1207C>G

1 paper

NM_024586.6

p.K615_K616insTAA

c.1843_1847ins9

1 paper

NM_024586.6

p.S617fs

c.1849_1850fs

1 paper

NM_148906.3

p.K615_Y616insTAA

c.1843_1847ins9

1 paper

NM_024586.6

p.T639fs

c.1915_1916fs