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

30 papers

NM_018972.4

p.R310Q

c.929G>A

Surrounding Variants

2 papers

NM_018972.4

p.R310P

c.929G>C

4 papers

NM_018972.4

p.R310W

c.928C>T

1 paper

NM_018972.4

p.K313T

c.938A>C

2 papers

NM_018972.4

p.P306L

c.917C>T

1 paper

NM_018972.4

p.R315W

c.943A>T

1 paper

NM_018972.4

p.L300S

c.899T>C

3 papers

NM_018972.4

p.T322M

c.965C>T

5 papers

NM_018972.4

p.N297K

c.891C>A

5 papers

NM_018972.4

p.N297K

c.891C>G

2 papers

NM_018972.4

p.N297T

c.890A>C

1 paper

NM_018972.4

p.V296I

c.886G>A

1 paper

NM_018972.4

p.V326D

c.977T>A