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

Selected Variant

1 paper

NM_002045.4

p.D58V

c.173A>T

Surrounding Variants

1 paper

NM_002045.4

p.E54K

c.160G>A

1 paper

NM_002045.4

p.E65K

c.193G>A

1 paper

NM_002045.4

p.K69R

c.206A>G

1 paper

NM_002045.4

p.K69M

c.206A>T

1 paper

NM_002045.4

p.H45Y

c.133C>T

1 paper

NM_001130064.2

p.P109L

c.326C>T

1 paper

NM_002045.4

p.R43H

c.128G>A

1 paper

NM_002045.4

p.R43P

c.128G>C

1 paper

NM_001130064.2

p.V110I

c.328G>A

1 paper

NM_001130064.2

p.V110V

c.330T>C

NM_002045.4

p.V74V

c.222T>C

1 paper

NM_001130064.2

p.V114L

c.340G>C

1 paper

NM_001130064.2

p.I74I

c.222T>C