Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.I26L

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.I26L
c.76A>C
Surrounding Variants
1 paper
NM_018440.4
p.I26N
c.77T>A
1 paper
NM_018440.4
p.I26fs
c.76_77fs
1 paper
NM_018440.4
p.F27L
c.79T>C
1 paper
NM_018440.4
p.V24delFs
c.70_71delAC
1 paper
NM_018440.4
p.A22_A23del0
c.64_69del6
1 paper
NM_018440.4
p.F27L
c.81C>G
1 paper
NM_018440.4
p.F27L
c.81C>A
2 papers
NM_018440.4
p.F28S
c.83T>C
1 paper
NM_018440.4
p.F28Y
c.83T>A
1 paper
NM_018440.4
p.A23V
c.68C>T
1 paper
NM_018440.4
p.F28delFs
c.82delA
4 papers
NM_018440.4
p.V29I
c.85G>A
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