Varaico: Literature-Extracted Genetic Variants

Gene:PIP5K1C
Variant:p.S318fs

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.S318fs
c.952_953fs
Surrounding Variants
1 paper
NM_012398.3
p.Y317_S318insFs
c.949_952dup4
2 papers
NM_012398.3
p.D316A
c.947A>C
1 paper
NM_012398.3
p.I326S
c.977T>G
1 paper
NM_012398.3
p.R331C
c.991C>T
1 paper
NM_012398.3
p.G337D
c.1010G>A
1 paper
NM_012398.3
p.G349G
c.1047C>T
1 paper
NM_012398.3
p.E359K
c.1075G>A
1 paper
NM_012398.3
p.Q362*
c.1084C>T
1 paper
NM_012398.3
p.A370V
c.1109C>T
1 paper
NM_012398.3
p.E372K
c.1114G>A
1 paper
NM_012398.3
p.E372D
c.1116A>T
1 paper
NM_012398.3
p.E372D
c.1116A>C
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