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.S64R

c.192C>A

Surrounding Variants

2 papers

NM_017784.5

p.S64R

c.192C>G

1 paper

NM_017784.5

p.S64fs

c.190_191fs

1 paper

NM_017784.5

p.P65L

c.194C>T

2 papers

NM_017784.5

p.S64R

c.190A>C

1 paper

NM_017784.5

p.A63delFs

c.189delA

1 paper

NM_017784.5

p.A63D

c.188C>A

2 papers

NM_017784.5

p.A63P

c.187G>C

1 paper

NM_017784.5

p.A63T

c.187G>A

1 paper

NM_017784.5

p.A62V

c.185C>T

1 paper

NM_017784.5

p.G70A

c.209G>C

1 paper

NM_017784.5

p.G70D

c.209G>A

1 paper

NM_017784.5

p.S56I

c.167G>T