Varaico: Literature-Extracted Genetic Variants

Gene:PIP4K2A
Variant:p.D109G

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.D109G
c.326A>G
Surrounding Variants
1 paper
NM_005028.5
p.Q110L
c.329A>T
1 paper
NM_005028.5
p.D111E
c.333T>A
1 paper
NM_005028.5
p.F105_G106delFs
c.313_317del5
1 paper
NM_005028.5
p.L101P
c.302T>C
1 paper
NM_005028.5
p.P95Q
c.284C>A
1 paper
NM_005028.5
p.Y93Y
c.279C>T
1 paper
NM_005028.5
p.I72V
c.214A>G
1 paper
NM_005028.5
p.V55D
c.164T>A
1 paper
NM_005028.5
p.I49N
c.146T>A
1 paper
NM_005028.5
p.S48_I49Splc
c.145-2A>T
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