Varaico: Literature-Extracted Genetic Variants

Gene:GAP43
Variant:p.E210Splc

GAP43

88 papers

RefSeq Summary

The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This pro...

Pfam Domains

Neuromodulin_Naa 2–31UCSCGap junction protein N-terminal region
Neuromodulin_Naa 2–31UCSCGap junction protein N-terminal region
IQaa 32–52UCSCIQ calmodulin-binding motif
IQaa 32–52UCSCIQ calmodulin-binding motif
Neuromodulinaa 67–238UCSCNeuromodulin
Neuromodulinaa 67–238UCSCNeuromodulin

Gene Aliases

HGNC Name

growth associated protein 43

HGNC Alias Symbols

B-50; PP46; GAP-43

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002045.4
p.E210Splc
c.629-3C>T
Surrounding Variants
2 papers
NM_002045.4
p.E214_T215del1
c.642_644delAAC
1 paper
NM_002045.4
p.A238T
c.712G>A
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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."