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

1 paper

NM_080597.4

p.Q845_M846Splc

c.2535+30A>G

Surrounding Variants

3 papers

NM_080597.4

p.V831I

c.2491G>A

2 papers

NM_080597.4

p.S810P

c.2428T>C

1 paper

NM_080597.4

p.Y847N

c.2539T>A

1 paper

NM_080597.4

p.L856F

c.2568G>T

1 paper

NM_080597.4

p.L856F

c.2568G>C

1 paper

NM_080597.4

p.I867N

c.2600T>A

1 paper

NM_080597.4

p.S890C

c.2668A>T

1 paper

NM_080597.4

p.K894fs

c.2680_2681fs

1 paper

NM_080597.4

p.K894delFs

c.2682delT

2 papers

NM_080597.4

p.S804N

c.2411G>A

1 paper

NM_080597.4

p.E800Q

c.2398G>C

1 paper

NM_080597.4

p.D794G

c.2381A>G