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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NIPAL2

Variant:p.D137N

NIPAL2

8q22.2 (UCSC)GTEx

23 papers

Pfam Domains

Mg_trans_NIPAaa 45–332UCSCMagnesium transporter NIPA

Gene Aliases

HGNC Name

NIPA like domain containing 2

HGNC Previous Symbol

NPAL2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:98236182 C>T

NM_001321635.2

p.D137N

c.409G>A

exact variant not in gnomAD29 overlapping SVs

Surrounding Variants

chr8:98236214 C>T

NM_001321635.2

p.G126D

c.377G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a29 overlapping SVs

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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."