Varaico: Literature-Extracted Genetic Variants

Gene:PIP5K1C
Variant:p.A656T

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
2 papers
NM_012398.3
p.A656T
c.1966G>A
Surrounding Variants
1 paper
NM_012398.3
p.A658fs
c.1972_1973fs
3 papers
NM_012398.3
p.P659S
c.1975C>T
1 paper
NM_012398.3
p.H653Y
c.1957C>T
2 papers
NM_012398.3
p.P659L
c.1976C>T
1 paper
NM_012398.3
p.L652F
c.1954C>T
1 paper
NM_012398.3
p.P660insFs
c.1979dupC
1 paper
NM_012398.3
p.P660fs
c.1978_1979fs
1 paper
NM_012398.3
p.P660delFs
c.1979delG
2 papers
NM_012398.3
p.Y649F
c.1946A>T
1 paper
NM_012398.3
p.W647L
c.1940G>T
1 paper
NM_012398.3
p.R645M
c.1934G>T
1 paper
NM_012398.3
p.D667N
c.1999G>A
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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."