Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.P46A

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.P46A
c.136C>G
Surrounding Variants
2 papers
NM_018440.4
p.K45N
c.135G>C
1 paper
NM_018440.4
p.P46L
c.137C>T
2 papers
NM_018440.4
p.K45E
c.133A>G
1 paper
NM_018440.4
p.R42K
c.125G>A
2 papers
NM_018440.4
p.H53L
c.158A>T
1 paper
NM_018440.4
p.H53Q
c.159T>G
1 paper
NM_018440.4
p.H53Q
c.159T>A
1 paper
NM_018440.4
p.E54V
c.161A>T
1 paper
NM_018440.4
p.S38delFs
c.112delA
1 paper
NM_018440.4
p.C37*
c.111C>A
1 paper
NM_018440.4
p.L33R
c.98T>G
2 papers
NM_018440.4
p.V29A
c.86T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."