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

1–12 of 150 variants

5 papers

NM_017784.5

p.N254D

c.760A>G

3 papers

NM_017784.5

p.S14N

c.41G>A

3 papers

NM_017784.5

p.S16N

c.47G>A

3 papers

NM_017784.5

p.A24T

c.70G>A

3 papers

NM_017784.5

p.L81F

c.241C>T

3 papers

NM_017784.5

p.R94K

c.281G>A

3 papers

NM_017784.5

p.R94T

c.281G>C

3 papers

NM_017784.5

p.R94K

c.281G>A

3 papers

NM_017784.5

p.S324L

c.971C>T

2 papers

NM_017784.5

p.T8T

c.24A>T

2 papers

NM_017784.5

p.S14T

c.41G>C

2 papers

NM_017784.5

p.S16T

c.47G>C