Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.A8A

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.A8A
c.24G>A
Surrounding Variants
1 paper
NM_144599.5
p.A9V
c.26C>T
1 paper
NM_144599.5
p.A15_A16ins0
c.45_47dupGGC
5 papers
NM_144599.5
p.A14_A16ins1
c.42_47dup6
9 papers
NM_144599.5
p.A15_A16del1
c.45_47delGGC
1 paper
NM_144599.5
p.A6insFs
c.18dupG
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
1 paper
NM_144599.5
p.A6insFs
c.16dupG
1 paper
NM_144599.5
p.A12V
c.35C>T
1 paper
NM_144599.5
p.A13V
c.38C>T
2 papers
NM_144599.5
p.T3I
c.8C>T
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