Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.M1insFs

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.M1insFs
c.3dupG
Surrounding Variants
1 paper
NM_144599.5
p.G2delFs
c.5delG
1 paper
NM_144599.5
p.M1delFs
c.2delT
1 paper
NM_144599.5
p.G2W
c.4G>T
1 paper
NM_144599.5
p.G2E
c.5G>A
2 papers
NM_144599.5
p.T3delFs
c.8delC
1 paper
NM_144599.5
p.A4_A6del0
c.12_17del6
2 papers
NM_144599.5
p.T3I
c.8C>T
1 paper
NM_144599.5
p.A6insFs
c.16dupG
1 paper
NM_144599.5
p.A6insFs
c.18dupG
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
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