Varaico: Literature-Extracted Genetic Variants

Gene:CPLX2
Variant:p.M55I

CPLX2

33 papers

RefSeq Summary

Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product...

Pfam Domains

Synaphinaa 1–133UCSCSynaphin protein

Gene Aliases

HGNC Name

complexin 2

HGNC Alias Symbols

CPX-2; DKFZp547D155

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001008220.2
p.M55I
c.165G>A
Surrounding Variants
1 paper
NM_001008220.2
p.M55I
c.165G>C
1 paper
NM_001008220.2
p.M55I
c.165G>T
1 paper
NM_001008220.2
p.R48L
c.143G>T
1 paper
NM_001008220.2
p.Q44E
c.130C>G
1 paper
NM_001008220.2
p.R37G
c.109C>G
1 paper
NM_001008220.2
p.E36delFs
c.108delG
1 paper
NM_001008220.2
p.E35K
c.103G>A
1 paper
NM_001008220.2
p.K33E
c.97A>G
1 paper
NM_001008220.2
p.Q31E
c.91C>G
1 paper
NM_001008220.2
p.A30P
c.88G>C
1 paper
NM_001008220.2
p.K14Q
c.40A>C
1 paper
NM_001008220.2
p.T13S
c.37A>T
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