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.R94M

c.281G>T

Surrounding Variants

2 papers

NM_017784.5

p.R94T

c.281G>C

3 papers

NM_017784.5

p.R94K

c.281G>A

2 papers

NM_017784.5

p.R94Splc

c.281+1G>A

1 paper

NM_017784.5

p.W91C

c.273G>T

1 paper

NM_017784.5

p.W91C

c.273G>C

1 paper

NM_017784.5

p.G90S

c.268G>A

1 paper

NM_017784.5

p.L88fs

c.262_263fs

1 paper

NM_017784.5

p.Y84C

c.251A>G

1 paper

NM_017784.5

p.S82N

c.245G>A

3 papers

NM_017784.5

p.L81F

c.241C>T

1 paper

NM_017784.5

p.V80M

c.238G>A

1 paper

NM_017784.5

p.E78D

c.234G>T