Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.E106V

PAG1

663 papers

RefSeq Summary

The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provid...

Pfam Domains

PAGaa 1–432UCSCPhosphoprotein associated with glycosphingolipid-enriched

Gene Aliases

HGNC Name

phosphoprotein membrane anchor with glycosphingolipid microdomains 1

HGNC Alias Symbol

CBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018440.4
p.E106V
c.317A>T
Surrounding Variants
1 paper
NM_018440.4
p.E106K
c.316G>A
1 paper
NM_018440.4
p.E107K
c.319G>A
1 paper
NM_018440.4
p.T110A
c.328A>G
1 paper
NM_018440.4
p.S111A
c.331T>G
1 paper
NM_018440.4
p.S111T
c.331T>A
1 paper
NM_018440.4
p.S111S
c.333G>C
1 paper
NM_018440.4
p.S113*
c.338C>A
1 paper
NM_018440.4
p.T98T
c.294T>C
1 paper
NM_018440.4
p.D117V
c.350A>T
1 paper
NM_018440.4
p.S118A
c.352T>G
1 paper
NM_018440.4
p.S94*
c.281C>G
1 paper
NM_018440.4
p.L93insFs
c.278_279insT
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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."