Varaico: Literature-Extracted Genetic Variants

OSBPL1A

80 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

Ank_2aa 9–111UCSCAnkyrin repeats (3 copies)

Ank_2aa 109–206UCSCAnkyrin repeats (3 copies)

Ank_2aa 144–232UCSCAnkyrin repeats (3 copies)

Oxysterol_BPaa 548–943UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 1A

HGNC Previous Symbol

OSBPL1B

Papers

RefSeq ID

Protein change

DNA change

1–12 of 95 variants

6 papers

NM_080597.4

p.C39*

c.117C>A

3 papers

NM_080597.4

p.I37_N38insFs

c.109_112dup4

3 papers

NM_080597.4

p.V831I

c.2491G>A

2 papers

NM_080597.4

p.I37I

c.111T>C

2 papers

NM_080597.4

p.C39insFs

c.115_116ins4

2 papers

NM_080597.4

p.C39fs

c.115_116fs

2 papers

NM_080597.4

p.Q115_T116ins4

c.343_347ins12

2 papers

NM_080597.4

p.A159V

c.476C>T

2 papers

NM_080597.4

p.C297R

c.889T>C

2 papers

NM_080597.4

p.P467P

c.1401C>T

2 papers

NM_080597.4

p.S804N

c.2411G>A

2 papers

NM_080597.4

p.S810P

c.2428T>C