Varaico: Literature-Extracted Genetic Variants

Gene:NIPA2

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
1–12 of 37 variants
8 papers
NM_030922.7
p.I178F
c.532A>T
7 papers
NM_030922.7
p.N244S
c.731A>G
4 papers
NM_030922.7
p.N334_E335ins1
c.1002_1003insGAT
3 papers
NM_030922.7
p.*361fs
c.1081_1082fs
2 papers
NM_030922.7
p.A75T
c.223G>A
2 papers
NM_030922.7
p.I342_E343delFs
c.1025_1028del4
1 paper
NM_030922.7
p.M1insFs
c.3dupG
1 paper
NM_030922.7
p.Y8Y
c.24T>C
1 paper
NM_030922.7
p.G13R
c.37G>C
1 paper
NM_030922.7
p.K33delFs
c.98delA
1 paper
NM_030922.7
p.K33fs
c.97_98fs
1 paper
NM_030922.7
p.G34delFs
c.101delG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."