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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ESYT3

Variant:p.M1insFs

ESYT3

3q22.3 (UCSC)OMIM GTEx

66 papers

Pfam Domains

SMP_LBDaa 114–291UCSCSynaptotagmin-like mitochondrial-lipid-binding domain

C2aa 306–410UCSCC2 domain

C2aa 446–564UCSCC2 domain

C2aa 769–878UCSCC2 domain

Gene Aliases

HGNC Name

extended synaptotagmin 3

HGNC Previous Symbol

FAM62C

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:138434798 G>GA

NM_031913.5

p.M1insFs

c.1dupA

exact variant not in gnomAD71 overlapping SVs

Surrounding Variants

chr3:138435102 CG>C

NM_031913.5

p.G103delFs

c.308delG

Exome: 0.0% (AC=1, hom=0)Genome: n/a71 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."