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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NAPA

Variant:p.N3Y

NAPA

86 papers

RefSeq Summary

This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP...

Pfam Domains

SNAPaa 8–288UCSCSoluble NSF attachment protein, SNAP

Gene Aliases

HGNC Name

NSF attachment protein alpha

HGNC Previous Name

N-ethylmaleimide-sensitive factor attachment protein, alpha

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:47514934 T>A

NM_003827.4

p.N3Y

c.7A>T

exact variant not in gnomAD10 overlapping SVs

Surrounding Variants

1 paper

chr19:47514916 C>T

NM_003827.4

p.E9K

c.25G>A

SNAP

Exome: 0.1% (AC=1060, hom=9)Genome: 0.1% (AC=159, hom=0)10 overlapping SVs

1 paper

chr19:47514876 T>C

NM_003827.4

p.K22R

c.65A>G

SNAP

Exome: 0.0% (AC=5, hom=0)Genome: n/a10 overlapping SVs

5 papers

chr19:47514861 A>G

NM_003827.4

p.F27S

c.80T>C

SNAP

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

5 papers

chr19:47514858 A>G

NM_003827.4

p.F28S

c.83T>C

SNAP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:47514850 G>A

NM_003827.4

p.L31F

c.91C>T

SNAP

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=4, hom=0)10 overlapping SVs

1 paper

chr19:47514846 A>G

NM_003827.4

p.F32S

c.95T>C

SNAP

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:47514839 T>G

NM_003827.4

p.G33Splc

c.98+4A>C

exact variant not in gnomAD10 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."