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.V296I

c.886G>A

Surrounding Variants

2 papers

NM_018972.4

p.N297T

c.890A>C

5 papers

NM_018972.4

p.N297K

c.891C>A

5 papers

NM_018972.4

p.N297K

c.891C>G

1 paper

NM_018972.4

p.G294R

c.880G>A

1 paper

NM_018972.4

p.G294R

c.880G>C

1 paper

NM_018972.4

p.L300S

c.899T>C

1 paper

NM_001040875.4

p.K223_V224insFs

c.667_671dup5

1 paper

NM_018972.4

p.F289S

c.866T>C

1 paper

NM_018972.4

p.F289fs

c.865_866fs

8 papers

NM_018972.4

p.T288insFs

c.863_864insA

1 paper

NM_018972.4

p.T288delFs

c.864delA

3 papers

NM_018972.4

p.T288fs

c.862_863fs