Varaico: Literature-Extracted Genetic Variants

OSBPL11

47 papers

RefSeq Summary

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology d...

Pfam Domains

PHaa 60–155UCSCPH domain

Oxysterol_BPaa 372–685UCSCOxysterol-binding protein

Oxysterol_BPaa 682–740UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 11

HGNC Alias Symbols

ORP-11; ORP11; FLJ13012; FLJ13164

Papers

RefSeq ID

Protein change

DNA change

1–12 of 67 variants

2 papers

NM_022776.5

p.R171W

c.511C>T

2 papers

NM_022776.5

p.S184L

c.551C>T

2 papers

NM_022776.5

p.A506S

c.1516G>T

2 papers

NM_022776.5

p.P568P

c.1704C>T

1 paper

NM_022776.5

p.G4C

c.10G>T

1 paper

NM_022776.5

p.P6P

c.18A>T

1 paper

NM_022776.5

p.N31K

c.93C>G

1 paper

NM_022776.5

p.N31K

c.93C>A

1 paper

NM_022776.5

p.S39G

c.115A>G

1 paper

NM_022776.5

p.S55G

c.163A>G

1 paper

NM_022776.5

p.S55Splc

c.164+95T>C

1 paper

NM_022776.5

p.S55Splc

c.164+120G>C