Varaico: Literature-Extracted Genetic Variants

Gene:INPP1
Variant:p.A53A

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
2 papers
NM_001128928.2
p.A53A
c.159T>C
Surrounding Variants
1 paper
NM_001128928.2
p.D54A
c.161A>C
2 papers
NM_001128928.2
p.T51T
c.153G>T
1 paper
NM_001128928.2
p.D48E
c.144C>A
1 paper
NM_001128928.2
p.D48E
c.144C>G
1 paper
NM_001128928.2
p.K62R
c.185A>G
1 paper
NM_001128928.2
p.I33S
c.98T>G
1 paper
NM_001128928.2
p.L32Q
c.95T>A
1 paper
NM_001128928.2
p.E26D
c.78A>C
1 paper
NM_001128928.2
p.E26D
c.78A>T
1 paper
NM_001128928.2
p.E13_K14insA
c.37_41ins3
1 paper
NM_001128928.2
p.E7K
c.19G>A
2 papers
NM_001128928.2
p.L5insFs
c.14_15insA
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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."