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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NAPG

Variant:p.L311P

NAPG

23 papers

RefSeq Summary

This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs a...

Pfam Domains

SNAPaa 7–261UCSCSoluble NSF attachment protein, SNAP

Gene Aliases

HGNC Name

NSF attachment protein gamma

HGNC Previous Name

N-ethylmaleimide-sensitive factor attachment protein, gamma

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr18:10550213 T>C

NM_003826.3

p.L311P

c.932T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a2 overlapping SVs

Surrounding Variants

1 paper

chr18:10550145 A>G

NM_003826.3

p.P288P

c.864A>G

exact variant not in gnomAD2 overlapping SVs

1 paper

chr18:10549085 A>G

NM_003826.3

p.M262V

c.784A>G

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)2 overlapping SVs

1 paper

chr18:10546343 T>C

NM_003826.3

p.L175P

c.524T>C

SNAP

Exome: 0.0% (AC=1, hom=0)Genome: n/a2 overlapping SVs

1 paper

chr18:10540396 G>A

NM_003826.3

p.R168H

c.503G>A

SNAP

Exome: 0.1% (AC=1103, hom=6)Genome: 0.1% (AC=88, hom=0)2 overlapping SVs

1 paper

chr18:10540345 G>A

NM_003826.3

p.R151Q

c.452G>A

SNAP

Exome: 0.0% (AC=83, hom=0)Genome: 0.0% (AC=17, hom=0)2 overlapping SVs

1 paper

chr18:10540340 C>T

NM_003826.3

p.R149R

c.447C>T

SNAP

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=1, hom=0)2 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."