Varaico: Literature-Extracted Genetic Variants

Gene:INPP1
Variant:p.L351V

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.L351V
c.1051T>G
Surrounding Variants
1 paper
NM_001128928.2
p.A360T
c.1078G>A
1 paper
NM_001128928.2
p.W366*
c.1097G>A
2 papers
NM_001128928.2
p.D333A
c.998A>C
1 paper
NM_001128928.2
p.A374V
c.1121C>T
1 paper
NM_001128928.2
p.M327T
c.980T>C
1 paper
NM_001128928.2
p.R325R
c.973A>C
1 paper
NM_001128928.2
p.S377A
c.1129T>G
1 paper
NM_001128928.2
p.E382*
c.1144G>T
1 paper
NM_001128928.2
p.K314Q
c.940A>C
1 paper
NM_001128928.2
p.L388delFs
c.1163_1164delTG
1 paper
NM_001128928.2
p.F307L
c.921T>A
1 paper
NM_001128928.2
p.F307L
c.921T>G
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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."