Varaico: Literature-Extracted Genetic Variants

Gene:OSBP
Variant:p.R131delFs

OSBP

98 papers

RefSeq Summary

Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reduct...

Pfam Domains

PHaa 90–181UCSCPH domain
Oxysterol_BPaa 418–796UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein

HGNC Alias Symbol

OSBP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002556.3
p.R131delFs
c.391delG
Surrounding Variants
2 papers
NM_002556.3
p.R131C
c.391C>T
1 paper
NM_002556.3
p.A124G
c.371C>G
1 paper
NM_002556.3
p.S122fs
c.364_365fs
1 paper
NM_002556.3
p.R121T
c.362G>C
1 paper
NM_002556.3
p.C147Y
c.440G>A
1 paper
NM_002556.3
p.R169W
c.505C>T
1 paper
NM_002556.3
p.V173G
c.518T>G
1 paper
NM_002556.3
p.T174A
c.520A>G
1 paper
NM_002556.3
p.K182E
c.544A>G
1 paper
NM_002556.3
p.L214I
c.640C>A
1 paper
NM_002556.3
p.E260G
c.779A>G
1 paper
NM_002556.3
p.T263T
c.789A>C
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