Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.L233P

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.L233P
c.698T>C
Surrounding Variants
1 paper
NM_144599.5
p.A226V
c.677C>T
1 paper
NM_144599.5
p.Q224H
c.672G>C
1 paper
NM_144599.5
p.Q224H
c.672G>T
1 paper
NM_144599.5
p.V243I
c.727G>A
9 papers
NM_144599.5
p.Q244R
c.731A>G
2 papers
NM_144599.5
p.P221L
c.662C>T
1 paper
NM_144599.5
p.P221T
c.661C>A
1 paper
NM_144599.5
p.P221S
c.661C>T
2 papers
NM_144599.5
p.N249S
c.746A>G
4 papers
NM_144599.5
p.K250Q
c.748A>C
1 paper
NM_144599.5
p.A251A
c.753G>A
1 paper
NM_144599.5
p.C254R
c.760T>C
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