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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VAMP3

VAMP3

35 papers

RefSeq Summary

Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynap...

Pfam Domains

Synaptobrevinaa 14–94UCSCSynaptobrevin

Gene Aliases

HGNC Name

vesicle associated membrane protein 3

HGNC Alias Symbol

CEB

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr1:7778151 TTCA>T

NM_004781.4

p.I94del1

c.280_281delATC

Synaptobrevin

Exome: 0.0% (AC=31, hom=1)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

1 paper

chr1:7773485 C>T

NM_004781.4

p.Q16*

c.46C>T

Synaptobrevin

Exome: n/aGenome: 0.0% (AC=1, hom=0)14 overlapping SVs

1 paper

chr1:7777182 A>G

NM_004781.4

p.N32S

c.95A>G

Synaptobrevin

exact variant not in gnomAD14 overlapping SVs

1 paper

chr1:7777213 GCTCT>G

NM_004781.4

p.L43_S44delFs

c.129_132del4

Synaptobrevin

Exome: 0.0% (AC=2, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr1:7777220 G>GN

NM_004781.4

p.E45fs

c.133_134fs

Synaptobrevin

exact variant not in gnomAD14 overlapping SVs

1 paper

chr1:7777241 G>T

NM_004781.4

p.A52S

c.154G>T

Synaptobrevin

exact variant not in gnomAD14 overlapping SVs

1 paper

chr1:7777256 G>T

NM_004781.4

p.A57S

c.169G>T

Synaptobrevin

exact variant not in gnomAD14 overlapping SVs

1 paper

chr1:7778127 A>G

NM_004781.4

p.I81V

c.241A>G

Synaptobrevin

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=3, hom=0)15 overlapping SVs

1 paper

chr1:7779640 T>G

NM_004781.4

p.S100A

c.298T>G

exact variant not in gnomAD15 overlapping SVs

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