Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.G31S

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
Selected Variant
1 paper
NM_144599.5
p.G31S
c.91G>A
Surrounding Variants
1 paper
NM_144599.5
p.G31R
c.91G>C
1 paper
NM_144599.5
p.A27P
c.79G>C
1 paper
NM_144599.5
p.V37M
c.109G>A
1 paper
NM_144599.5
p.S24fs
c.70_71fs
1 paper
NM_144599.5
p.S24insFs
c.70dupA
3 papers
NM_144599.5
p.S22_S24del3
c.64_71del9
1 paper
NM_144599.5
p.L40L
c.120G>A
1 paper
NM_144599.5
p.V41M
c.121G>A
1 paper
NM_144599.5
p.A20E
c.59C>A
4 papers
NM_144599.5
p.N42K
c.126C>A
4 papers
NM_144599.5
p.N42K
c.126C>G
2 papers
NM_144599.5
p.E18G
c.53A>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."