Varaico: Literature-Extracted Genetic Variants

Gene:PIP5K1A
Variant:p.S179I

PIP5K1A

45 papers

Pfam Domains

PIP5Kaa 164–448UCSCPhosphatidylinositol-4-phosphate 5-Kinase

Gene Aliases

HGNC Name

phosphatidylinositol-4-phosphate 5-kinase type 1 alpha

HGNC Previous Name

phosphatidylinositol-4-phosphate 5-kinase, type I, alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001135638.2
p.S179I
c.536G>T
Surrounding Variants
1 paper
NM_001135638.2
p.A178P
c.532G>C
1 paper
NM_001135638.2
p.G177R
c.529G>C
1 paper
NM_001135638.2
p.S186F
c.557C>T
1 paper
NM_001135638.2
p.S186delins
c.557_558delinsTT
1 paper
NM_001135638.2
p.E190Q
c.568G>C
1 paper
NM_001135638.2
p.E190D
c.570G>C
1 paper
NM_001135638.2
p.E190D
c.570G>T
1 paper
NM_001135638.2
p.L162_Y163Splc
c.487-1G>A
1 paper
NM_001135638.2
p.L204L
c.612G>C
1 paper
NM_001135638.2
p.R157R
c.471G>A
1 paper
NM_001135638.2
p.V115L
c.343G>C
1 paper
NM_001135638.2
p.V115L
c.343G>T
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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."