Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.F280L

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.F280L
c.838T>C
Surrounding Variants
1 paper
NM_144599.5
p.F280L
c.840C>A
1 paper
NM_144599.5
p.F280L
c.840C>G
2 papers
NM_144599.5
p.R281Q
c.842G>A
1 paper
NM_144599.5
p.A275V
c.824C>T
1 paper
NM_144599.5
p.G287S
c.859G>A
1 paper
NM_144599.5
p.D290H
c.868G>C
1 paper
NM_144599.5
p.T300I
c.899C>T
1 paper
NM_144599.5
p.V301I
c.901G>A
1 paper
NM_144599.5
p.V303M
c.907G>A
1 paper
NM_144599.5
p.V303L
c.907G>C
1 paper
NM_144599.5
p.V303L
c.907G>T
1 paper
NM_144599.5
p.G304R
c.910G>A
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