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.S109F

c.326C>T

Surrounding Variants

1 paper

NM_002045.4

p.S109T

c.325T>A

1 paper

NM_001130064.2

p.E146K

c.436G>A

NM_002045.4

p.E110K

c.328G>A

2 papers

NM_002045.4

p.P108insFs

c.322_323insGT

1 paper

NM_002045.4

p.E111K

c.331G>A

1 paper

NM_002045.4

p.T107T

c.321T>A

1 paper

NM_002045.4

p.G105G

c.315A>T

1 paper

NM_002045.4

p.G114R

c.340G>A

NM_001130064.2

p.G150R

c.448G>A

1 paper

NM_002045.4

p.G114R

c.340G>C

NM_001130064.2

p.G150R

c.448G>C

1 paper

NM_002045.4

p.G114G

c.342G>A

1 paper

NM_002045.4

p.E100K

c.298G>A

1 paper

NM_002045.4

p.S96F

c.287C>T

1 paper

NM_002045.4

p.A90V

c.269C>T