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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SYNGR1

Variant:p.W27*

SYNGR1

37 papers

RefSeq Summary

This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest th...

Pfam Domains

MARVELaa 20–167UCSCMembrane-associating domain

Gene Aliases

HGNC Name

synaptogyrin 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr22:39364274 G>A

NM_145738.3

p.W27*

c.80G>A

MARVEL

exact variant not in gnomAD6 overlapping SVs

Surrounding Variants

1 paper

chr22:39364275 G>A

NM_145738.3

p.W27*

c.81G>A

MARVEL

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=5, hom=0)6 overlapping SVs

1 paper

chr22:39364270 A>G

NM_145738.3

p.S26G

c.76A>G

MARVEL

Exome: 0.3% (AC=4950, hom=42)Genome: 0.6% (AC=930, hom=5)6 overlapping SVs

1 paper

chr22:39364248 C>T

NM_145738.3

p.S18S

c.54C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr22:39364208 A>AC

NM_145738.3

p.E5insFs

c.14_15insC

exact variant not in gnomAD6 overlapping SVs

1 paper

chr22:39364208 A>ATTAC

NM_145738.3

p.E5insFs

c.14_15ins4

exact variant not in gnomAD6 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."