Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.A279V

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
3 papers
NM_018440.4
p.A279V
c.836C>T
Surrounding Variants
1 paper
NM_018440.4
p.E280A
c.839A>C
1 paper
NM_018440.4
p.E278Q
c.832G>C
1 paper
NM_018440.4
p.E280_E281insFs
c.840_841insT
1 paper
NM_018440.4
p.S282C
c.844A>T
1 paper
NM_018440.4
p.K274Q
c.820A>C
2 papers
NM_018440.4
p.S288C
c.862A>T
1 paper
NM_018440.4
p.N270S
c.809A>G
1 paper
NM_018440.4
p.D266delFs
c.797delT
2 papers
NM_018440.4
p.D266N
c.796G>A
1 paper
NM_018440.4
p.L265P
c.794T>C
1 paper
NM_018440.4
p.K263R
c.788A>G
1 paper
NM_018440.4
p.P261S
c.781C>T
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