Varaico: Literature-Extracted Genetic Variants

Gene:INPP1
Variant:p.V116V

INPP1

98 papers

RefSeq Summary

This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the ...

Pfam Domains

Inositol_Paa 75–381UCSCInositol monophosphatase family

Gene Aliases

HGNC Name

inositol polyphosphate-1-phosphatase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001128928.2
p.V116V
c.348G>A
Surrounding Variants
1 paper
NM_001128928.2
p.A120A
c.360A>T
1 paper
NM_001128928.2
p.N112Y
c.334A>T
1 paper
NM_001128928.2
p.E101E
c.303G>A
1 paper
NM_001128928.2
p.D133E
c.399C>A
1 paper
NM_001128928.2
p.D133E
c.399C>G
1 paper
NM_001128928.2
p.C97fs
c.289_290fs
1 paper
NM_001128928.2
p.T139K
c.416C>A
1 paper
NM_001128928.2
p.I92N
c.275T>A
1 paper
NM_001128928.2
p.I92insFs
c.275_276insC
1 paper
NM_001128928.2
p.W151*
c.452G>A
1 paper
NM_001128928.2
p.W151*
c.453G>A
2 papers
NM_001128928.2
p.P154L
c.461C>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."