Varaico: Literature-Extracted Genetic Variants

Gene:PIP4K2B
Variant:p.S19R

PIP4K2B

32 papers

RefSeq Summary

The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This g...

Pfam Domains

PIP5Kaa 120–414UCSCPhosphatidylinositol-4-phosphate 5-Kinase

Gene Aliases

HGNC Name

phosphatidylinositol-5-phosphate 4-kinase type 2 beta

HGNC Previous Symbol

PIP5K2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003559.5
p.S19R
c.55A>C
Surrounding Variants
1 paper
NM_003559.5
p.S19R
c.57C>G
1 paper
NM_003559.5
p.S19R
c.57C>A
1 paper
NM_003559.5
p.A12_L16delFs
c.34_47del14
2 papers
NM_003559.5
p.V13G
c.38T>G
1 paper
NM_003559.5
p.A12fs
c.34_35fs
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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."