Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.C89F

GPIHBP1

155 papers

RefSeq Summary

This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored prote...

Pfam Domains

Toxin_TOLIPaa 63–137UCSCSnake toxin and toxin-like protein

Gene Aliases

HGNC Name

glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1

HGNC Alias Symbols

LOC338328; GPI-HBP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
20 papers
NM_178172.6
p.C89F
c.266G>T
Surrounding Variants
8 papers
NM_178172.6
p.C89*
c.267C>A
1 paper
NM_178172.6
p.T90A
c.268A>G
1 paper
NM_178172.6
p.T90delFs
c.270delA
1 paper
NM_178172.6
p.T88A
c.262A>G
2 papers
NM_178172.6
p.L92insFs
c.274dupC
2 papers
NM_178172.6
p.T91A
c.271A>G
1 paper
NM_178172.6
p.Q87L
c.260A>T
1 paper
NM_178172.6
p.T91I
c.272C>T
1 paper
NM_178172.6
p.L92F
c.274C>T
1 paper
NM_178172.6
p.G86A
c.257G>C
1 paper
NM_178172.6
p.I93T
c.278T>C
1 paper
NM_178172.6
p.I93S
c.278T>G
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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."