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

5 papers

NM_018972.4

p.G327D

c.980G>A

Surrounding Variants

1 paper

NM_018972.4

p.G327A

c.980G>C

1 paper

NM_018972.4

p.G327insFs

c.980dupG

1 paper

NM_018972.4

p.L328fs

c.982_983fs

1 paper

NM_018972.4

p.V326D

c.977T>A

3 papers

NM_018972.4

p.T322M

c.965C>T

3 papers

NM_018972.4

p.A336S

c.1006G>T

1 paper

NM_018972.4

p.M338I

c.1014G>A

1 paper

NM_018972.4

p.M338I

c.1014G>C

1 paper

NM_018972.4

p.M338I

c.1014G>T

1 paper

NM_018972.4

p.L339insFs

c.1015_1016insT

1 paper

NM_018972.4

p.R315W

c.943A>T

1 paper

NM_018972.4

p.R341_R343del3

c.1021_1028del9