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.S597L

c.1790C>T

Surrounding Variants

1 paper

NM_022776.5

p.A572G

c.1715C>G

2 papers

NM_022776.5

p.P568P

c.1704C>T

1 paper

NM_022776.5

p.R614Splc

c.1841+127A>T

1 paper

NM_022776.5

p.R614Splc

c.1841+156G>A

1 paper

NM_022776.5

p.V546L

c.1636G>T

1 paper

NM_022776.5

p.V546L

c.1636G>C

1 paper

NM_022776.5

p.I544V

c.1630A>G

1 paper

NM_022776.5

p.K538T

c.1613A>C

1 paper

NM_022776.5

p.E524*

c.1570G>T

1 paper

NM_022776.5

p.G517R

c.1549G>C

1 paper

NM_022776.5

p.G517R

c.1549G>A

2 papers

NM_022776.5

p.A506S

c.1516G>T