Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.L40L

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.L40L
c.120G>A
Surrounding Variants
1 paper
NM_144599.5
p.V41M
c.121G>A
4 papers
NM_144599.5
p.N42K
c.126C>A
4 papers
NM_144599.5
p.N42K
c.126C>G
1 paper
NM_144599.5
p.V37M
c.109G>A
1 paper
NM_144599.5
p.T45_V47del3
c.133_140del9
29 papers
NM_144599.5
p.T45R
c.134C>G
1 paper
NM_144599.5
p.V47_L48ins6
c.139_143ins18
1 paper
NM_144599.5
p.G31S
c.91G>A
1 paper
NM_144599.5
p.G31R
c.91G>C
1 paper
NM_144599.5
p.K51N
c.153G>C
1 paper
NM_144599.5
p.G52A
c.155G>C
4 papers
NM_144599.5
p.I53M
c.159C>G
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