Varaico: Literature-Extracted Genetic Variants

Gene:PI4K2A
Variant:p.R328Q

PI4K2A

56 papers

RefSeq Summary

Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII pho...

Pfam Domains

PI3_PI4_kinaseaa 133–431UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

phosphatidylinositol 4-kinase type 2 alpha

HGNC Alias Symbols

PI4KII; DKFZP761G1923; PIK42A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018425.4
p.R328Q
c.983G>A
Surrounding Variants
1 paper
NM_018425.4
p.D312G
c.935A>G
3 papers
NM_018425.4
p.R309*
c.925C>T
1 paper
NM_018425.4
p.D308Splc
c.923-129A>T
1 paper
NM_018425.4
p.T330delFs
c.989_990delCA
1 paper
NM_018425.4
p.H355Y
c.1063C>T
1 paper
NM_018425.4
p.L385F
c.1153C>T
2 papers
NM_018425.4
p.S389_N392del4
c.1165_1175del12
1 paper
NM_018425.4
p.Q415*
c.1243C>T
1 paper
NM_018425.4
p.Q419H
c.1257G>C
1 paper
NM_018425.4
p.Q419H
c.1257G>T
3 papers
NM_018425.4
p.D308A
c.923A>C
1 paper
NM_018425.4
p.V298M
c.892G>A
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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."