Varaico: Literature-Extracted Genetic Variants

Gene:PIP5K1A
Variant:p.S467*

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.S467*
c.1400C>A
Surrounding Variants
1 paper
NM_001135638.2
p.S467*
c.1400C>G
1 paper
NM_001135638.2
p.G477D
c.1430G>A
1 paper
NM_001135638.2
p.G504G
c.1512C>T
2 papers
NM_001135638.2
p.R509C
c.1525C>T
1 paper
NM_001135638.2
p.T516A
c.1546A>G
1 paper
NM_001135638.2
p.L536L
c.1608A>G
1 paper
NM_001135638.2
p.Y437C
c.1310A>G
1 paper
NM_001135638.2
p.R433C
c.1297C>T
1 paper
NM_001135637.2
p.R382S
c.1146G>C
1 paper
NM_001135637.2
p.R382S
c.1146G>T
2 papers
NM_001135636.2
p.R360*
c.1078C>T
NM_001135638.2
p.R372*
c.1114C>T
1 paper
NM_001135638.2
p.T350P
c.1048A>C
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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."