Varaico: Literature-Extracted Genetic Variants

Gene:PAG1

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
1–12 of 206 variants
4 papers
NM_018440.4
p.V29I
c.85G>A
4 papers
NM_018440.4
p.L166P
c.497T>C
3 papers
NM_018440.4
p.L93R
c.278T>G
3 papers
NM_018440.4
p.P252L
c.755C>T
3 papers
NM_018440.4
p.A279V
c.836C>T
2 papers
NM_018440.4
p.T16I
c.47C>T
2 papers
NM_018440.4
p.F28S
c.83T>C
2 papers
NM_018440.4
p.V29A
c.86T>C
2 papers
NM_018440.4
p.K45E
c.133A>G
2 papers
NM_018440.4
p.K45N
c.135G>C
2 papers
NM_018440.4
p.P46A
c.136C>G
2 papers
NM_018440.4
p.H53L
c.158A>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."