Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.D42V

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.D42V
c.125A>T
Surrounding Variants
1 paper
NM_178172.6
p.E43K
c.127G>A
2 papers
NM_178172.6
p.E41A
c.122A>C
2 papers
NM_178172.6
p.E40K
c.118G>A
1 paper
NM_178172.6
p.E40_E41ins4
c.118_122ins12
1 paper
NM_178172.6
p.E45delFs
c.133_134delGA
1 paper
NM_178172.6
p.E45_E48delFs
c.133_143del11
2 papers
NM_178172.6
p.E40delFs
c.118delG
1 paper
NM_178172.6
p.D39N
c.115G>A
4 papers
NM_178172.6
p.Y38*
c.114C>A
1 paper
NM_178172.6
p.V46A
c.137T>C
2 papers
NM_178172.6
p.V46V
c.138G>T
1 paper
NM_178172.6
p.D37N
c.109G>A
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