Varaico: Literature-Extracted Genetic Variants

Gene:NIPA2
Variant:p.V71L

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.V71L
c.211G>T
Surrounding Variants
2 papers
NM_030922.7
p.A75T
c.223G>A
1 paper
NM_030922.7
p.A90S
c.268G>T
1 paper
NM_030922.7
p.I114M
c.342T>G
1 paper
NM_030922.7
p.C116*
c.348T>A
1 paper
NM_030922.7
p.E134insFs
c.401dupA
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.W60*
c.180G>A
1 paper
NM_030922.7
p.W60*
c.179G>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
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