Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.G17G

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.G17G
c.51G>T
Surrounding Variants
1 paper
NM_144599.5
p.E18K
c.52G>A
2 papers
NM_144599.5
p.E18G
c.53A>G
5 papers
NM_144599.5
p.A16del1
c.46_47delGCC
1 paper
NM_144599.5
p.A20E
c.59C>A
3 papers
NM_144599.5
p.S22_S24del3
c.64_71del9
1 paper
NM_144599.5
p.A13V
c.38C>T
1 paper
NM_144599.5
p.A12V
c.35C>T
1 paper
NM_144599.5
p.S24insFs
c.70dupA
1 paper
NM_144599.5
p.S24fs
c.70_71fs
1 paper
NM_144599.5
p.A11G
c.32C>G
1 paper
NM_144599.5
p.A11V
c.32C>T
1 paper
NM_144599.5
p.A12_G17del6
c.34_50del18
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."