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

Selected Variant

1 paper

NM_022776.5

p.A137Splc

c.409+197T>C

Surrounding Variants

1 paper

NM_022776.5

p.H121H

c.363C>T

1 paper

NM_022776.5

p.N83N

c.249C>T

1 paper

NM_022776.5

p.R78Splc

c.233+43G>C

1 paper

NM_022776.5

p.N164S

c.491A>G

1 paper

NM_022776.5

p.S55G

c.163A>G

2 papers

NM_022776.5

p.R171W

c.511C>T

1 paper

NM_022776.5

p.R171Q

c.512G>A

1 paper

NM_022776.5

p.S177F

c.530C>T

1 paper

NM_022776.5

p.S179R

c.535A>C

1 paper

NM_022776.5

p.S179R

c.537T>G

1 paper

NM_022776.5

p.S179R

c.537T>A

2 papers

NM_022776.5

p.S184L

c.551C>T