Varaico: Literature-Extracted Genetic Variants

Gene:PIP4K2A
Variant:p.S316R

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005028.5
p.S316R
c.948C>A
Surrounding Variants
1 paper
NM_005028.5
p.S316R
c.948C>G
1 paper
NM_005028.5
p.P317A
c.949C>G
1 paper
NM_005028.5
p.S316R
c.946A>C
1 paper
NM_005028.5
p.P313_P317del5
c.937_950del15
1 paper
NM_005028.5
p.P334P
c.1002G>A
1 paper
NM_005028.5
p.G298E
c.893G>A
1 paper
NM_005028.5
p.D297A
c.890A>C
1 paper
NM_005028.5
p.V291M
c.871G>A
1 paper
NM_005028.5
p.S347S
c.1041G>A
1 paper
NM_005028.5
p.D359N
c.1075G>A
1 paper
NM_005028.5
p.G380_A381Splc
c.1140+1G>A
1 paper
NM_005028.5
p.K260E
c.778A>G
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