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.N165K

c.495T>G

Surrounding Variants

1 paper

NM_080597.4

p.N165K

c.495T>A

1 paper

NM_080597.4

p.R186W

c.556C>T

1 paper

NM_080597.4

p.R197K

c.590G>A

1 paper

NM_080597.4

p.D201E

c.603C>G

1 paper

NM_080597.4

p.D201E

c.603C>A

1 paper

NM_080597.4

p.L204P

c.611T>C

2 papers

NM_080597.4

p.A159V

c.476C>T

2 papers

NM_080597.4

p.Q115_T116ins4

c.343_347ins12

1 paper

NM_080597.4

p.G114_Q115ins4

c.340_344ins12

1 paper

NM_080597.4

p.G112fs

c.334_335fs

1 paper

NM_080597.4

p.E102delFs

c.304_305delTC

1 paper

NM_080597.4

p.E102fs

c.304_305fs