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

8 papers

NM_018972.4

p.V219G

c.656T>G

Surrounding Variants

5 papers

NM_018972.4

p.V219D

c.656T>A

1 paper

NM_018972.4

p.V219A

c.656T>C

2 papers

NM_018972.4

p.Q218R

c.653A>G

29 papers

NM_018972.4

p.Q218E

c.652C>G

12 papers

NM_018972.4

p.E222K

c.664G>A

2 papers

NM_018972.4

p.L223_Q224insFs

c.667_671dup5

1 paper

NM_018972.4

p.E222D

c.666A>C

1 paper

NM_018972.4

p.E222D

c.666A>T

6 papers

NM_018972.4

p.L223*

c.668T>A

4 papers

NM_018972.4

p.V215I

c.643G>A

1 paper

NM_018972.4

p.Q224insFs

c.671dupA

2 papers

NM_018972.4

p.Q224fs

c.670_671fs