Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.M189I

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.M189I
c.567G>T
Surrounding Variants
1 paper
NM_144599.5
p.M189I
c.567G>A
1 paper
NM_144599.5
p.M189I
c.567G>C
1 paper
NM_144599.5
p.T186S
c.556A>T
1 paper
NM_144599.5
p.G199R
c.595G>C
1 paper
NM_144599.5
p.L174_L175insFs
c.522_523insTT
1 paper
NM_144599.5
p.L174_L175ins1
c.522_523insTTT
1 paper
NM_144599.5
p.Y164N
c.490T>A
2 papers
NM_144599.5
p.V162M
c.484G>A
1 paper
NM_144599.5
p.P221T
c.661C>A
1 paper
NM_144599.5
p.P221S
c.661C>T
2 papers
NM_144599.5
p.P221L
c.662C>T
1 paper
NM_144599.5
p.Q224H
c.672G>C
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."