Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL5
Variant:p.A5T

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.A5T
c.13G>A
Surrounding Variants
1 paper
NM_020896.4
p.S12Y
c.35C>A
1 paper
NM_020896.4
p.C14Y
c.41G>A
1 paper
NM_020896.4
p.P20S
c.58C>T
1 paper
NM_020896.4
p.R30W
c.88C>T
1 paper
NM_020896.4
p.D37N
c.109G>A
1 paper
NM_020896.4
p.D59A
c.176A>C
2 papers
NM_020896.4
p.T90I
c.269C>T
1 paper
NM_020896.4
p.L99F
c.295C>T
2 papers
NM_020896.4
p.R112H
c.335G>A
1 paper
NM_020896.4
p.L117L
c.349C>T
1 paper
NM_020896.4
p.V148M
c.442G>A
1 paper
NM_020896.4
p.T168S
c.502A>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."