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.E458V

c.1373A>T

Surrounding Variants

1 paper

NM_080597.4

p.E453*

c.1357G>T

2 papers

NM_080597.4

p.P467P

c.1401C>T

1 paper

NM_080597.4

p.N440K

c.1320C>G

1 paper

NM_080597.4

p.N440K

c.1320C>A

1 paper

NM_080597.4

p.D478A

c.1433A>C

1 paper

NM_080597.4

p.E434D

c.1302A>T

1 paper

NM_080597.4

p.E434D

c.1302A>C