Varaico: Literature-Extracted Genetic Variants

Gene:PIP5K1C
Variant:p.P471L

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.P471L
c.1412C>T
Surrounding Variants
1 paper
NM_012398.3
p.S482I
c.1445G>T
1 paper
NM_012398.3
p.E483Q
c.1447G>C
1 paper
NM_012398.3
p.E485G
c.1454A>G
1 paper
NM_012398.3
p.E486K
c.1456G>A
1 paper
NM_012398.3
p.P454L
c.1361C>T
1 paper
NM_012398.3
p.A494G
c.1481C>G
1 paper
NM_012398.3
p.R495H
c.1484G>A
1 paper
NM_012398.3
p.P513L
c.1538C>T
1 paper
NM_012398.3
p.A525V
c.1574C>T
1 paper
NM_012398.3
p.R538Q
c.1613G>A
2 papers
NM_012398.3
p.E542K
c.1624G>A
1 paper
NM_012398.3
p.K446fs
c.1336_1337fs
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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."