Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.N83K

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
5 papers
NM_144599.5
p.N83K
c.249C>A
Surrounding Variants
5 papers
NM_144599.5
p.N83K
c.249C>G
2 papers
NM_144599.5
p.I81T
c.242T>C
3 papers
NM_144599.5
p.A86G
c.257C>G
1 paper
NM_144599.5
p.Q80*
c.238C>T
1 paper
NM_144599.5
p.V78D
c.233T>A
2 papers
NM_144599.5
p.V78G
c.233T>G
1 paper
NM_144599.5
p.A89V
c.266C>T
2 papers
NM_144599.5
p.P91R
c.272C>G
1 paper
NM_144599.5
p.T92M
c.275C>T
1 paper
NM_144599.5
p.P97T
c.289C>A
1 paper
NM_144599.5
p.G99G
c.297C>T
16 papers
NM_144599.5
p.A100T
c.298G>A
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