Varaico: Literature-Extracted Genetic Variants

Gene:NIPA2
Variant:p.L163W

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.L163W
c.488T>G
Surrounding Variants
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
1 paper
NM_030922.7
p.L179L
c.537T>A
1 paper
NM_030922.7
p.V180V
c.540G>T
1 paper
NM_030922.7
p.L199L
c.597G>T
7 papers
NM_030922.7
p.N244S
c.731A>G
1 paper
NM_030922.7
p.S312fs
c.934_935fs
1 paper
NM_030922.7
p.M320V
c.958A>G
4 papers
NM_030922.7
p.N334_E335ins1
c.1002_1003insGAT
1 paper
NM_030922.7
p.E336Q
c.1006G>C
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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."