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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIP4K2A

Variant:p.K145R

PIP4K2A

66 papers

RefSeq Summary

Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell prolifera...

Pfam Domains

PIP5Kaa 115–404UCSCPhosphatidylinositol-4-phosphate 5-Kinase

Gene Aliases

HGNC Name

phosphatidylinositol-5-phosphate 4-kinase type 2 alpha

HGNC Previous Symbol

PIP5K2A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr10:22591687 T>C

NM_005028.5

p.K145R

c.434A>G

PIP5K

exact variant not in gnomAD13 overlapping SVs

Surrounding Variants

1 paper

chr10:22591685 T>C

NM_005028.5

p.T146A

c.436A>G

PIP5K

exact variant not in gnomAD13 overlapping SVs

1 paper

chr10:22591691 T>C

NM_005028.5

p.I144V

c.430A>G

PIP5K

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=2, hom=0)13 overlapping SVs

3 papers

chr10:22591708 T>A

NM_005028.5

p.Y138F

c.413A>T

PIP5K

exact variant not in gnomAD13 overlapping SVs

1 paper

chr10:22591769 T>C

NM_005028.5

p.R118G

c.352A>G

PIP5K

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr10:22592119 G>A

NM_005028.5

p.Q113_N114Splc

c.340-338C>T

exact variant not in gnomAD13 overlapping SVs

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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."