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

1–12 of 45 variants

2 papers

NM_024586.6

p.T282I

c.845C>T

2 papers

NM_024586.6

p.L403V

c.1207C>G

1 paper

NM_024586.6

p.E6Q

c.16G>C

1 paper

NM_024586.6

p.W12*

c.35G>A

1 paper

NM_024586.6

p.W12*

c.36G>A

1 paper

NM_024586.6

p.T37_S38Splc

c.112-12853A>G

1 paper

NM_024586.6

p.S38_K39insFs

c.114_115ins4

1 paper

NM_024586.6

p.S38_K39insFs

c.114_115ins11

1 paper

NM_024586.6

p.S38F

c.113C>T

1 paper

NM_024586.6

p.R47C

c.139C>T

1 paper

NM_024586.6

p.V51D

c.152T>A

1 paper

NM_024586.6

p.R54_G55Splc

c.162+5G>A