Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.L166P

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
4 papers
NM_018440.4
p.L166P
c.497T>C
Surrounding Variants
2 papers
NM_018440.4
p.Y163C
c.488A>G
1 paper
NM_018440.4
p.S170F
c.509C>T
2 papers
NM_018440.4
p.E173Q
c.517G>C
1 paper
NM_018440.4
p.G158G
c.474G>A
1 paper
NM_018440.4
p.E177V
c.530A>T
1 paper
NM_018440.4
p.Q155*
c.463C>T
1 paper
NM_018440.4
p.D178A
c.533A>C
1 paper
NM_018440.4
p.D154N
c.460G>A
1 paper
NM_018440.4
p.E182K
c.544G>A
1 paper
NM_018440.4
p.T183I
c.548C>T
2 papers
NM_018440.4
p.V184M
c.550G>A
1 paper
NM_018440.4
p.A148V
c.443C>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."