Varaico: Literature-Extracted Genetic Variants

GDAP1

377 papers

RefSeq Summary

This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this g...

Pfam Domains

GST_N_3aa 28–105UCSCGlutathione S-transferase, N-terminal domain

GST_C_2aa 48–173UCSCGlutathione S-transferase, C-terminal domain

Gene Aliases

HGNC Name

ganglioside induced differentiation associated protein 1

HGNC Previous Symbol

CMT4A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018972.4

p.K207E

c.619A>G

Surrounding Variants

1 paper

NM_018972.4

p.K207T

c.620A>C

1 paper

NM_018972.4

p.K206insFs

c.617_618insG

1 paper

NM_018972.4

p.L205S

c.614T>C

1 paper

NM_018972.4

p.L205W

c.614T>G

1 paper

NM_018972.4

p.L209V

c.625C>G

1 paper

NM_018972.4

p.E211K

c.631G>A

3 papers

NM_018972.4

p.N201S

c.602A>G

1 paper

NM_018972.4

p.N201delFs

c.603delT

1 paper

NM_018972.4

p.N201fs

c.601_602fs

2 papers

NM_018972.4

p.D200N

c.598G>A

4 papers

NM_018972.4

p.V215I

c.643G>A

1 paper

NM_018972.4

p.D198fs

c.592_593fs