Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL5
Variant:p.F186L

OSBPL5

63 papers

RefSeq Summary

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most mem...

Pfam Domains

PHaa 127–243UCSCPH domain
Oxysterol_BPaa 371–718UCSCOxysterol-binding protein

Gene Aliases

HGNC Name

oxysterol binding protein like 5

HGNC Alias Symbols

KIAA1534; ORP5; OBPH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020896.4
p.F186L
c.558C>G
Surrounding Variants
1 paper
NM_020896.4
p.F186L
c.558C>A
1 paper
NM_020896.4
p.F186L
c.556T>C
1 paper
NM_020896.4
p.K182Q
c.544A>C
1 paper
NM_020896.4
p.V198I
c.592G>A
2 papers
NM_020896.4
p.E175K
c.523G>A
2 papers
NM_020896.4
p.W199*
c.596G>A
2 papers
NM_020896.4
p.W199*
c.597G>A
1 paper
NM_020896.4
p.A200V
c.599C>T
1 paper
NM_020896.4
p.L170fs
c.508_509fs
1 paper
NM_020896.4
p.T168S
c.502A>T
1 paper
NM_020896.4
p.V148M
c.442G>A
1 paper
NM_020896.4
p.L221L
c.661C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."