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

3 papers

NM_018972.4

p.D129H

c.385G>C

Surrounding Variants

10 papers

NM_018972.4

p.S130C

c.389C>G

1 paper

NM_018972.4

p.L127Q

c.380T>A

1 paper

NM_018972.4

p.P132S

c.394C>T

4 papers

NM_018972.4

p.E126K

c.376G>A

1 paper

NM_018972.4

p.R125Q

c.374G>A

8 papers

NM_018972.4

p.R125*

c.373C>T

1 paper

NM_018972.4

p.Y124*

c.372C>A

1 paper

NM_018972.4

p.Y124*

c.372C>G

2 papers

NM_018972.4

p.D134delFs

c.400delG

2 papers

NM_018972.4

p.Y124C

c.371A>G

1 paper

NM_018972.4

p.Y124_D129delFs

c.372_387del16

2 papers

NM_018972.4

p.M133I

c.399G>A