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.T285P

c.853A>C

Surrounding Variants

1 paper

NM_080597.4

p.T290M

c.869C>T

1 paper

NM_080597.4

p.W265R

c.793T>C

1 paper

NM_080597.4

p.W265R

c.793T>A

1 paper

NM_080597.4

p.G261R

c.781G>A

1 paper

NM_080597.4

p.H260R

c.779A>G

1 paper

NM_080597.4

p.F248L

c.744T>G

1 paper

NM_080597.4

p.F248L

c.744T>A

1 paper

NM_080597.4

p.F248L

c.742T>C

1 paper

NM_080597.4

p.V230I

c.688G>A

1 paper

NM_080597.4

p.V291A

c.872T>C

2 papers

NM_080597.4

p.C297R

c.889T>C

1 paper

NM_080597.4

p.F304_D305del2

c.910_914del6