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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SYTL3

Variant:p.K127*

SYTL3

6q25.3 (UCSC)OMIM GTEx

56 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of peripheral membrane proteins that play a role in vesicular trafficking. This protein binds phospholipids in the presence of calcium ions. Altern...

Pfam Domains

FYVE_2aa 8–124UCSCFYVE-type zinc finger

C2aa 321–433UCSCC2 domain

C2aa 480–586UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin like 3

HGNC Alias Symbols

SLP3; exophilin-6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr6:158682974 A>T

NM_001242394.2

p.K127*

c.379A>T

exact variant not in gnomAD50 overlapping SVs

Surrounding Variants

chr6:158682976 A>G

NM_001242394.2

p.K127K

c.381A>G

Exome: 0.1% (AC=1209, hom=1)Genome: 0.1% (AC=108, hom=0)50 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."