Varaico: Literature-Extracted Genetic Variants

Gene:PI4K2B
Variant:p.A275T

PI4K2B

36 papers

RefSeq Summary

This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. ...

Pfam Domains

PI3_PI4_kinaseaa 129–429UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

phosphatidylinositol 4-kinase type 2 beta

HGNC Alias Symbols

PI4KIIB; FLJ11105; PIK42B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018323.4
p.A275T
c.823G>A
Surrounding Variants
1 paper
NM_018323.4
p.L278delFs
c.833delT
1 paper
NM_018323.4
p.L270delFs
c.809delT
1 paper
NM_018323.4
p.Q287H
c.861G>C
1 paper
NM_018323.4
p.Q287H
c.861G>T
1 paper
NM_018323.4
p.V294_I295delFs
c.880_883del4
1 paper
NM_018323.4
p.S255S
c.765C>T
1 paper
NM_018323.4
p.G248*
c.742G>T
1 paper
NM_018323.4
p.R228T
c.683G>C
1 paper
NM_018323.4
p.R224C
c.670C>T
1 paper
NM_018323.4
p.I203N
c.608T>A
1 paper
NM_018323.4
p.G191D
c.572G>A
2 papers
NM_018323.4
p.E334del1
c.1000_1001delGAA
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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."