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

2 papers

NM_018972.4

p.Q235*

c.703C>T

Surrounding Variants

1 paper

NM_018972.4

p.Q235E

c.703C>G

1 paper

NM_018972.4

p.G234C

c.700G>T

1 paper

NM_018972.4

p.E233G

c.698A>G

1 paper

NM_018972.4

p.E233*

c.697G>T

1 paper

NM_018972.4

p.W238G

c.712T>G

2 papers

NM_018972.4

p.W238L

c.713G>T

1 paper

NM_018972.4

p.W238C

c.714G>C

1 paper

NM_018972.4

p.W238C

c.714G>T

1 paper

NM_018972.4

p.L239I

c.715C>A

32 papers

NM_018972.4

p.L239F

c.715C>T

2 papers

NM_018972.4

p.L239P

c.716T>C

17 papers

NM_018972.4

p.C240Y

c.719G>A