Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.V138fs

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
1 paper
NM_178172.6
p.V138fs
c.412_413fs
Surrounding Variants
5 papers
NM_178172.6
p.V138_S143delFs
c.413_429del17
1 paper
NM_178172.6
p.P139_S144delFs
c.417_432del16
1 paper
NM_178172.6
p.P139S
c.415C>T
1 paper
NM_178172.6
p.P139L
c.416C>T
1 paper
NM_178172.6
p.P140T
c.418C>A
1 paper
NM_178172.6
p.P140A
c.418C>G
1 paper
NM_178172.6
p.P140S
c.418C>T
4 papers
NM_178172.6
p.P140fs
c.418_419fs
1 paper
NM_178172.6
p.L135Q
c.404T>A
1 paper
NM_178172.6
p.S143delFs
c.427delA
1 paper
NM_178172.6
p.Q142P
c.425A>C
2 papers
NM_178172.6
p.S133C
c.398C>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."