Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.T127A

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
2 papers
NM_178172.6
p.T127A
c.379A>G
Surrounding Variants
2 papers
NM_178172.6
p.V126A
c.377T>C
1 paper
NM_178172.6
p.M128Fs
c.384delinsTGGGCTFs
1 paper
NM_178172.6
p.T129A
c.385A>G
1 paper
NM_178172.6
p.T124N
c.371C>A
1 paper
NM_178172.6
p.T124A
c.370A>G
3 papers
NM_178172.6
p.C130R
c.388T>C
4 papers
NM_178172.6
p.G123E
c.368G>A
1 paper
NM_178172.6
p.G123A
c.368G>C
1 paper
NM_178172.6
p.E122A
c.365A>C
4 papers
NM_178172.6
p.Q132*
c.394C>T
1 paper
NM_178172.6
p.S133_S134del2
c.397_401del6
1 paper
NM_178172.6
p.S133_S143del11
c.397_428del33
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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."