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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SYTL5

Variant:p.G117A

SYTL5

42 papers

RefSeq Summary

The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SH...

Pfam Domains

FYVE_2aa 11–124UCSCFYVE-type zinc finger

C2aa 421–529UCSCC2 domain

C2aa 587–696UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin like 5

HGNC Alias Symbol

Slp5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chrX:38072067 G>C

NM_138780.3

p.G117A

c.350G>C

FYVE_2

Exome: 0.0% (AC=4, hom=0)Genome: n/a54 overlapping SVs

Surrounding Variants

1 paper

chrX:38073633 A>G

NM_138780.3

p.A163A

c.489A>G

Exome: 24.8% (AC=269093, hom=23614)Genome: 29.2% (AC=32294, hom=3865)54 overlapping SVs

2 papers

chrX:38076572 T>C

NM_138780.3

p.L187P

c.560T>C

Exome: 0.0% (AC=163, hom=0)Genome: 0.0% (AC=17, hom=0)54 overlapping SVs

1 paper

chrX:38076616 C>T

NM_138780.3

p.P202S

c.604C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a54 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."