Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.S239insFs

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.S239insFs
c.716_717insG
Surrounding Variants
2 papers
NM_018440.4
p.V240A
c.719T>C
2 papers
NM_018440.4
p.Q238L
c.713A>T
1 paper
NM_018440.4
p.V242A
c.725T>C
1 paper
NM_018440.4
p.C236F
c.707G>T
1 paper
NM_018440.4
p.C236R
c.706T>C
1 paper
NM_018440.4
p.E243A
c.728A>C
1 paper
NM_018440.4
p.S244_I245insFs
c.732_733insG
1 paper
NM_018440.4
p.K234N
c.702A>T
1 paper
NM_018440.4
p.K234N
c.702A>C
1 paper
NM_018440.4
p.D231_N233del0
c.691_699del9
2 papers
NM_018440.4
p.D231G
c.692A>G
1 paper
NM_018440.4
p.D231N
c.691G>A
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