Varaico: Literature-Extracted Genetic Variants

Gene:SNAP23
Variant:p.S23C

SNAP23

57 papers

RefSeq Summary

Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntax...

Pfam Domains

SNAP-25aa 86–148UCSCSNAP-25 family

Gene Aliases

HGNC Name

synaptosome associated protein 23

HGNC Alias Symbols

SNAP23A; SNAP23B; HsT17016

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003825.4
p.S23C
c.67A>T
Surrounding Variants
1 paper
NM_003825.4
p.S23N
c.68G>A
1 paper
NM_003825.4
p.E33_S34Splc
c.100-1G>A
1 paper
NM_003825.4
p.S34S
c.102T>A
1 paper
NM_003825.4
p.Q35*
c.103C>T
1 paper
NM_003825.4
p.E19E
c.57G>A
2 papers
NM_003825.4
p.D18N
c.52G>A
1 paper
NM_003825.4
p.A13V
c.38C>T
2 papers
NM_003825.4
p.D2E
c.6T>A
2 papers
NM_003825.4
p.D2E
c.6T>G
1 paper
NM_003825.4
p.N3insFs
c.7_8insA
1 paper
NM_003825.4
p.E50Splc
c.149-2A>G
1 paper
NM_003825.4
p.R54S
c.160C>A
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