Varaico: Literature-Extracted Genetic Variants

Gene:GP2
Variant:p.P126S

GP2

147 papers

RefSeq Summary

This gene encodes an integral membrane protein that is secreted from intracellular zymogen granules and associates with the plasma membrane via glycosylphosphatidylinositol (GPI) linkage. The encoded ...

Pfam Domains

D8C_UMODaa 93–178UCSCUromodulin-like, D8C domain
ZP-Naa 229–323UCSCZP-N domain
Zona_pellucidaaa 347–478UCSCZP-C domain

Gene Aliases

HGNC Name

glycoprotein 2

HGNC Alias Symbol

ZAP75

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001502.4
p.P126S
c.376C>T
Surrounding Variants
1 paper
NM_001502.4
p.A127V
c.380C>T
2 papers
NM_001502.4
p.T124I
c.371C>T
1 paper
NM_001502.4
p.A127A
c.381C>G
1 paper
NM_001502.4
p.T124S
c.370A>T
1 paper
NM_001502.4
p.G129G
c.387G>A
1 paper
NM_001502.4
p.N122S
c.365A>G
1 paper
NM_001502.4
p.G131S
c.391G>A
2 papers
NM_001502.4
p.M119V
c.355A>G
1 paper
NM_001502.4
p.A117G
c.350C>G
3 papers
NM_001502.4
p.D116D
c.348C>T
2 papers
NM_001502.4
p.A137T
c.409G>A
1 paper
NM_001502.4
p.C113*
c.339C>A
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