Varaico: Literature-Extracted Genetic Variants

Gene:PI4K2A
Variant:p.I130_Y131delFs

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.I130_Y131delFs
c.389_392del4
Surrounding Variants
1 paper
NM_018425.4
p.Q132P
c.395A>C
1 paper
NM_018425.4
p.D107N
c.319G>A
1 paper
NM_018425.4
p.A92V
c.275C>T
1 paper
NM_018425.4
p.S51A
c.151T>G
1 paper
NM_018425.4
p.A40A
c.120G>A
4 papers
NM_018425.4
p.S22*
c.65C>A
1 paper
NM_018425.4
p.Y18Fs
c.54delinsCGFs
1 paper
NM_018425.4
p.Q14*
c.40C>T
1 paper
NM_018425.4
p.E156A
c.467A>C
2 papers
NM_018425.4
p.L162F
c.484C>T
1 paper
NM_018425.4
p.C177S
c.529T>A
1 paper
NM_018425.4
p.C177S
c.530G>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."