Varaico: Literature-Extracted Genetic Variants

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

IQaa 32–52UCSCIQ calmodulin-binding motif

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

1–12 of 74 variants

5 papers

NM_002045.4

p.C3S

c.7T>A

5 papers

NM_002045.4

p.C3S

c.8G>C

2 papers

NM_002045.4

p.P108insFs

c.322_323insGT

2 papers

NM_002045.4

p.E210Splc

c.629-3C>T

2 papers

NM_002045.4

p.E214_T215del1

c.642_644delAAC

1 paper

NM_002045.4

p.M1K

c.2T>A

1 paper

NM_002045.4

p.C4S

c.10T>A

1 paper

NM_002045.4

p.C4Y

c.11G>A

1 paper

NM_002045.4

p.C4S

c.11G>C

1 paper

NM_002045.4

p.R6G

c.16A>G

1 paper

NM_002045.4

p.K9E

c.25A>G

1 paper

NM_002045.4

p.Q10_V11Splc

c.31-17244G>A