Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.P138R

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.P138R
c.413C>G
Surrounding Variants
1 paper
NM_018440.4
p.I136I
c.408C>A
1 paper
NM_018440.4
p.E139del1
c.415_416delCTC
1 paper
NM_018440.4
p.A141T
c.421G>A
1 paper
NM_018440.4
p.R135T
c.404G>C
2 papers
NM_018440.4
p.R135K
c.404G>A
1 paper
NM_018440.4
p.S140_A141del1
c.419_421delCGC
1 paper
NM_018440.4
p.R135G
c.403A>G
1 paper
NM_018440.4
p.P134A
c.400C>G
1 paper
NM_018440.4
p.D143V
c.428A>T
1 paper
NM_018440.4
p.D143D
c.429T>C
1 paper
NM_018440.4
p.L133M
c.397C>A
1 paper
NM_018440.4
p.R131Q
c.392G>A
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