Varaico: Literature-Extracted Genetic Variants

Gene:NIPA2
Variant:p.W60*

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.W60*
c.179G>A
Surrounding Variants
1 paper
NM_030922.7
p.W60*
c.180G>A
1 paper
NM_030922.7
p.L54F
c.160C>T
1 paper
NM_030922.7
p.G47Splc
c.140-127G>C
1 paper
NM_030922.7
p.L35fs
c.103_104fs
1 paper
NM_030922.7
p.G34fs
c.100_101fs
1 paper
NM_030922.7
p.G34delFs
c.101delG
1 paper
NM_030922.7
p.K33fs
c.97_98fs
1 paper
NM_030922.7
p.K33delFs
c.98delA
1 paper
NM_030922.7
p.G13R
c.37G>C
1 paper
NM_030922.7
p.Y8Y
c.24T>C
1 paper
NM_030922.7
p.M1insFs
c.3dupG
1 paper
NM_030922.7
p.V71L
c.211G>T
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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."