Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.L21Q

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.L21Q
c.62T>A
Surrounding Variants
1 paper
NM_018440.4
p.A22G
c.65C>G
1 paper
NM_018440.4
p.A22D
c.65C>A
1 paper
NM_018440.4
p.A23V
c.68C>T
1 paper
NM_018440.4
p.A22_A23del0
c.64_69del6
1 paper
NM_018440.4
p.V24delFs
c.70_71delAC
1 paper
NM_018440.4
p.Q14_L17Fs
c.41_51delinsTFs
1 paper
NM_018440.4
p.L17P
c.50T>C
1 paper
NM_018440.4
p.I26L
c.76A>C
1 paper
NM_018440.4
p.I26N
c.77T>A
2 papers
NM_018440.4
p.T16I
c.47C>T
1 paper
NM_018440.4
p.T16S
c.47C>G
1 paper
NM_018440.4
p.I26fs
c.76_77fs
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