Varaico: Literature-Extracted Genetic Variants

Gene:NIPA2
Variant:p.E134insFs

NIPA2

56 papers

RefSeq Summary

This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in m...

Pfam Domains

Mg_trans_NIPAaa 8–302UCSCMagnesium transporter NIPA

Gene Aliases

HGNC Name

NIPA magnesium transporter 2

HGNC Alias Symbol

SLC57A2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030922.7
p.E134insFs
c.401dupA
Surrounding Variants
1 paper
NM_030922.7
p.C116*
c.348T>A
1 paper
NM_030922.7
p.I114M
c.342T>G
1 paper
NM_030922.7
p.G150Splc
c.448+215T>C
1 paper
NM_030922.7
p.G150Splc
c.448+2032A>T
1 paper
NM_030922.7
p.A90S
c.268G>T
2 papers
NM_030922.7
p.A75T
c.223G>A
1 paper
NM_030922.7
p.V71L
c.211G>T
1 paper
NM_030922.7
p.L163W
c.488T>G
1 paper
NM_030922.7
p.R172H
c.515G>A
1 paper
NM_030922.7
p.Q175E
c.523C>G
1 paper
NM_030922.7
p.T176insFs
c.526_527insT
8 papers
NM_030922.7
p.I178F
c.532A>T
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