Varaico: Literature-Extracted Genetic Variants

Gene:SYBU
Variant:p.K136M

SYBU

36 papers

RefSeq Summary

Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly ...

Pfam Domains

Syntaphilinaa 211–503UCSCGolgi-localised syntaxin-1-binding clamp

Gene Aliases

HGNC Name

syntabulin

HGNC Alias Symbols

FLJ20366; GOLSYN; KIAA1472; OCSYN; SNPHL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001099754.2
p.K136M
c.407A>T
Surrounding Variants
1 paper
NM_001099754.2
p.D108G
c.323A>G
1 paper
NM_001099754.2
p.C104*
c.312C>A
1 paper
NM_001099754.2
p.P93H
c.278C>A
1 paper
NM_001099754.2
p.D77G
c.230A>G
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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."