Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1

NIPA1

168 papers

RefSeq Summary

This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system develo...

Pfam Domains

Mg_trans_NIPAaa 27–314UCSCMagnesium transporter NIPA

Gene Aliases

HGNC Name

NIPA magnesium transporter 1

HGNC Previous Symbol

SPG6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 164 variants
43 papers
NM_144599.5
p.G106R
c.316G>C
42 papers
NM_144599.5
p.G106R
c.316G>A
29 papers
NM_144599.5
p.T45R
c.134C>G
16 papers
NM_144599.5
p.A100T
c.298G>A
9 papers
NM_144599.5
p.A15_A16del1
c.45_47delGGC
9 papers
NM_144599.5
p.Q244R
c.731A>G
5 papers
NM_144599.5
p.A14_A16ins1
c.42_47dup6
5 papers
NM_144599.5
p.A16del1
c.46_47delGCC
5 papers
NM_144599.5
p.N83K
c.249C>A
5 papers
NM_144599.5
p.N83K
c.249C>G
4 papers
NM_144599.5
p.N42K
c.126C>A
4 papers
NM_144599.5
p.N42K
c.126C>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."