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

1 paper

NM_017784.5

p.S54N

c.161G>A

Surrounding Variants

1 paper

NM_017784.5

p.S54R

c.162C>G

1 paper

NM_017784.5

p.S54R

c.162C>A

1 paper

NM_017784.5

p.S54R

c.160A>C

1 paper

NM_017784.5

p.R55R

c.165C>T

1 paper

NM_017784.5

p.S56I

c.167G>T

1 paper

NM_017784.5

p.S56N

c.167G>A

1 paper

NM_017784.5

p.G50A

c.149G>C

1 paper

NM_017784.5

p.L49L

c.147C>T

1 paper

NM_017784.5

p.A47S

c.139G>T

1 paper

NM_017784.5

p.A62V

c.185C>T

2 papers

NM_017784.5

p.A63P

c.187G>C

1 paper

NM_017784.5

p.A63T

c.187G>A