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

Selected Variant

6 papers

NM_080597.4

p.C39*

c.117C>A

Surrounding Variants

2 papers

NM_080597.4

p.C39fs

c.115_116fs

1 paper

NM_080597.4

p.C39insFs

c.115dupT

3 papers

NM_080597.4

p.I37_N38insFs

c.109_112dup4

2 papers

NM_080597.4

p.C39insFs

c.115_116ins4

1 paper

NM_080597.4

p.N38_C39insFs

c.114_115ins4

1 paper

NM_080597.4

p.A35_K40del0

c.105_119del15

2 papers

NM_080597.4

p.I37I

c.111T>C

1 paper

NM_080597.4

p.D36del1

c.106_108delGTC

1 paper

NM_080597.4

p.A35S

c.103G>T

1 paper

NM_080597.4

p.A29T

c.85G>A

1 paper

NM_080597.4

p.R14G

c.40A>G

1 paper

NM_080597.4

p.H12H

c.36C>T