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.T148A

c.442A>G

Surrounding Variants

1 paper

NM_002045.4

p.A146T

c.436G>A

1 paper

NM_001130064.2

p.P188L

c.563C>T

NM_002045.4

p.P152L

c.455C>T

1 paper

NM_002045.4

p.K155T

c.464A>C

1 paper

NM_002045.4

p.A138S

c.412G>T

1 paper

NM_002045.4

p.P160A

c.478C>G

1 paper

NM_002045.4

p.P160L

c.479C>T

1 paper

NM_001130064.2

p.E200E

c.600G>A

NM_002045.4

p.E164E

c.492G>A

1 paper

NM_002045.4

p.P165L

c.494C>T

1 paper

NM_002045.4

p.A129V

c.386C>T

1 paper

NM_002045.4

p.A168T

c.502G>A

1 paper

NM_002045.4

p.D169N

c.505G>A

1 paper

NM_002045.4

p.G114G

c.342G>A