Varaico: Literature-Extracted Genetic Variants

OSBPL10

78 papers

RefSeq Summary

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology d...

Pfam Domains

PH_8aa 75–175UCSCPleckstrin homology domain

Oxysterol_BPaa 402–708UCSCOxysterol-binding protein

Oxysterol_BPaa 703–764UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 10

HGNC Previous Name

oxysterol binding protein-like 10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_017784.5

p.T8T

c.24A>T

Surrounding Variants

1 paper

NM_017784.5

p.T8T

c.24A>G

1 paper

NM_017784.5

p.G7delFs

c.20_21delGC

1 paper

NM_017784.5

p.G7fs

c.19_20fs

1 paper

NM_017784.5

p.G7D

c.20G>A

1 paper

NM_017784.5

p.G10D

c.29G>A

1 paper

NM_017784.5

p.Q6*

c.16C>T

1 paper

NM_017784.5

p.G13S

c.37G>A

1 paper

NM_017784.5

p.G13V

c.38G>T

1 paper

NM_017784.5

p.G13D

c.38G>A

2 papers

NM_017784.5

p.S14T

c.41G>C

3 papers

NM_017784.5

p.S14N

c.41G>A

2 papers

NM_017784.5

p.S16T

c.47G>C