Varaico: Literature-Extracted Genetic Variants

Gene:PIP5K1C
Variant:p.K247M

PIP5K1C

95 papers

RefSeq Summary

This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphat...

Pfam Domains

PIP5Kaa 158–442UCSCPhosphatidylinositol-4-phosphate 5-Kinase

Gene Aliases

HGNC Name

phosphatidylinositol-4-phosphate 5-kinase type 1 gamma

HGNC Alias Symbols

PIP5Kgamma; KIAA0589; LCCS3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012398.3
p.K247M
c.740A>T
Surrounding Variants
1 paper
NM_012398.3
p.F252L
c.754T>C
1 paper
NM_012398.3
p.F252L
c.756C>G
1 paper
NM_012398.3
p.F252L
c.756C>A
7 papers
NM_012398.3
p.D253N
c.757G>A
1 paper
NM_012398.3
p.Q227_V236del10
c.679_707del30
1 paper
NM_012398.3
p.V236E
c.707T>A
1 paper
NM_012398.3
p.V236M
c.706G>A
1 paper
NM_012398.3
p.R262H
c.785G>A
1 paper
NM_012398.3
p.G230delFs
c.688_689delCC
1 paper
NM_012398.3
p.G230fs
c.688_689fs
2 papers
NM_012398.3
p.E269D
c.807G>T
2 papers
NM_012398.3
p.E269D
c.807G>C
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