Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.K126E

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.K126E
c.376A>G
Surrounding Variants
1 paper
NM_018440.4
p.C127S
c.379T>A
1 paper
NM_018440.4
p.C127S
c.380G>C
2 papers
NM_018440.4
p.K124I
c.371A>T
1 paper
NM_018440.4
p.G123E
c.368G>A
1 paper
NM_018440.4
p.R131Q
c.392G>A
1 paper
NM_018440.4
p.D120G
c.359A>G
1 paper
NM_018440.4
p.Q119L
c.356A>T
1 paper
NM_018440.4
p.L133M
c.397C>A
1 paper
NM_018440.4
p.S118A
c.352T>G
1 paper
NM_018440.4
p.P134A
c.400C>G
1 paper
NM_018440.4
p.D117V
c.350A>T
1 paper
NM_018440.4
p.R135G
c.403A>G
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