Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.E48D

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.E48D
c.144G>T
Surrounding Variants
1 paper
NM_178172.6
p.E48D
c.144G>C
3 papers
NM_178172.6
p.E48_E49ins4
c.142_146ins12
1 paper
NM_178172.6
p.E50K
c.148G>A
2 papers
NM_178172.6
p.V46V
c.138G>T
1 paper
NM_178172.6
p.V46A
c.137T>C
1 paper
NM_178172.6
p.N52_L54del0
c.154_162del9
4 papers
NM_178172.6
p.N52fs
c.154_155fs
1 paper
NM_178172.6
p.N52_R58del0
c.156_173del18
1 paper
NM_178172.6
p.E45delFs
c.133_134delGA
1 paper
NM_178172.6
p.E45_E48delFs
c.133_143del11
1 paper
NM_178172.6
p.E43K
c.127G>A
1 paper
NM_178172.6
p.D42V
c.125A>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."