Varaico: Literature-Extracted Genetic Variants

Gene:SYBU
Variant:p.N256del1

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.N256del1
c.766_767delATT
Surrounding Variants
1 paper
NM_001099754.2
p.N256S
c.767A>G
1 paper
NM_001099754.2
p.G237V
c.710G>T
1 paper
NM_001099746.2
p.R191P
c.572G>C
1 paper
NM_001099754.2
p.R178P
c.533G>C
1 paper
NM_001099754.2
p.R178Q
c.533G>A
1 paper
NM_001099754.2
p.E316Fs
c.946_947delinsAFs
1 paper
NM_001099754.2
p.E370A
c.1109A>C
1 paper
NM_001099754.2
p.L372L
c.1116C>T
1 paper
NM_001099754.2
p.T462I
c.1385C>T
1 paper
NM_001099754.2
p.S481G
c.1441A>G
1 paper
NM_001099754.2
p.Q489P
c.1466A>C
1 paper
NM_001099754.2
p.V493insFs
c.1479dupG
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