Varaico: Literature-Extracted Genetic Variants

Gene:SYT6

SYT6

35 papers

RefSeq Summary

The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 doma...

Pfam Domains

C2aa 244–352UCSCC2 domain
C2aa 376–482UCSCC2 domain

Gene Aliases

HGNC Name

synaptotagmin 6

HGNC Previous Name

synaptotagmin VI

Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
2 papers
NM_001253772.2
p.R249H
c.746G>A
1 paper
NM_001253772.2
p.R11W
c.31C>T
1 paper
NM_001253772.2
p.L22R
c.65T>G
1 paper
NM_001253772.2
p.P27S
c.79C>T
1 paper
NM_001253772.2
p.L32R
c.95T>G
1 paper
NM_001253772.2
p.D33Y
c.97G>T
1 paper
NM_001253772.2
p.A52V
c.155C>T
1 paper
NM_001253772.2
p.L60F
c.178C>T
1 paper
NM_001253772.2
p.L60H
c.179T>A
1 paper
NM_001253772.2
p.P101L
c.302C>T
1 paper
NM_001253772.2
p.G113C
c.337G>T
1 paper
NM_001253772.2
p.K118N
c.354G>T
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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."