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

11 papers

NM_018972.4

p.R191*

c.571C>T

Surrounding Variants

1 paper

NM_018972.4

p.R191Q

c.572G>A

1 paper

NM_018972.4

p.K193*

c.577A>T

1 paper

NM_018972.4

p.K188R

c.563A>G

11 papers

NM_018972.4

p.K193_S194Splc

c.579+1G>A

1 paper

NM_018972.4

p.I186fs

c.556_557fs

2 papers

NM_018972.4

p.I186V

c.556A>G

4 papers

NM_018972.4

p.I186delFs

c.558delT

1 paper

NM_018972.4

p.A184T

c.550G>A

1 paper

NM_018972.4

p.E183fs

c.547_548fs

1 paper

NM_018972.4

p.Q182K

c.544C>A

1 paper

NM_018972.4

p.Q182delFs

c.546delA

1 paper

NM_018972.4

p.D180D

c.540T>C