Varaico: Literature-Extracted Genetic Variants

Gene:CPLX1
Variant:p.Y70C

CPLX1

45 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 produc...

Pfam Domains

Synaphinaa 1–133UCSCSynaphin protein

Gene Aliases

HGNC Name

complexin 1

HGNC Alias Symbol

CPX-I

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006651.4
p.Y70C
c.209A>G
Surrounding Variants
1 paper
NM_006651.4
p.Y70*
c.210C>G
1 paper
NM_006651.4
p.Y70*
c.210C>A
1 paper
NM_006651.4
p.G71D
c.212G>A
1 paper
NM_006651.4
p.K69_Y70Splc
c.208-63G>A
1 paper
NM_006651.4
p.S93fs
c.277_278fs
1 paper
NM_006651.4
p.P103L
c.308C>T
1 paper
NM_006651.4
p.C105S
c.313T>A
1 paper
NM_006651.4
p.C105S
c.314G>C
3 papers
NM_006651.4
p.C105*
c.315C>A
3 papers
NM_006651.4
p.E108*
c.322G>T
1 paper
NM_006651.4
p.E110V
c.329A>T
1 paper
NM_006651.4
p.L124_P125del2
c.370_374del6
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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."