Varaico: Literature-Extracted Genetic Variants

Gene:PI4K2A
Variant:p.Y223H

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
1 paper
NM_018425.4
p.Y223H
c.667T>C
Surrounding Variants
1 paper
NM_018425.4
p.G258D
c.773G>A
1 paper
NM_018425.4
p.R275G
c.823C>G
3 papers
NM_018425.4
p.R275W
c.823C>T
1 paper
NM_018425.4
p.A279T
c.835G>A
1 paper
NM_018425.4
p.R288W
c.862C>T
1 paper
NM_018425.4
p.R296W
c.886C>T
1 paper
NM_018425.4
p.V298M
c.892G>A
3 papers
NM_018425.4
p.D308A
c.923A>C
1 paper
NM_018425.4
p.R181C
c.541C>T
1 paper
NM_018425.4
p.C177S
c.530G>C
1 paper
NM_018425.4
p.C177S
c.529T>A
2 papers
NM_018425.4
p.L162F
c.484C>T
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