Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.G106R

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
43 papers
NM_144599.5
p.G106R
c.316G>C
Surrounding Variants
42 papers
NM_144599.5
p.G106R
c.316G>A
1 paper
NM_144599.5
p.F105F
c.315C>T
1 paper
NM_144599.5
p.F105I
c.313T>A
2 papers
NM_144599.5
p.P104P
c.312G>A
1 paper
NM_144599.5
p.P104L
c.311C>T
1 paper
NM_144599.5
p.V103insFs
c.308_309insA
1 paper
NM_144599.5
p.G102R
c.304G>A
16 papers
NM_144599.5
p.A100T
c.298G>A
1 paper
NM_144599.5
p.G99G
c.297C>T
1 paper
NM_144599.5
p.P97T
c.289C>A
1 paper
NM_144599.5
p.T92M
c.275C>T
2 papers
NM_144599.5
p.P91R
c.272C>G
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