Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.S206A

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
2 papers
NM_018440.4
p.S206A
c.616T>G
Surrounding Variants
1 paper
NM_018440.4
p.T207S
c.619A>T
1 paper
NM_018440.4
p.T207S
c.620C>G
1 paper
NM_018440.4
p.S201N
c.602G>A
1 paper
NM_018440.4
p.E212Q
c.634G>C
1 paper
NM_018440.4
p.G199G
c.597C>T
1 paper
NM_018440.4
p.L213delFs
c.638delA
1 paper
NM_018440.4
p.P214R
c.641C>G
1 paper
NM_018440.4
p.P216T
c.646C>A
1 paper
NM_018440.4
p.E219D
c.657A>T
1 paper
NM_018440.4
p.E219D
c.657A>C
1 paper
NM_018440.4
p.K221insFs
c.662_663insG
1 paper
NM_018440.4
p.E223A
c.668A>C
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