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

1 paper

NM_018972.4

p.T157T

c.471T>G

Surrounding Variants

25 papers

NM_018972.4

p.T157P

c.469A>C

2 papers

NM_018972.4

p.T158I

c.473C>T

11 papers

NM_018972.4

p.A156G

c.467C>G

2 papers

NM_018972.4

p.A156T

c.466G>A

1 paper

NM_018972.4

p.R159R

c.477G>A

26 papers

NM_018972.4

p.R161H

c.482G>A

NM_001040875.4

p.R93H

c.278G>A

1 paper

NM_018972.4

p.P153Q

c.458C>A

22 papers

NM_018972.4

p.P153L

c.458C>T

1 paper

NM_018972.4

p.P153fs

c.457_458fs

2 papers

NM_018972.4

p.I152delFs

c.456delC

8 papers

NM_018972.4

p.D149Y

c.445G>T

1 paper

NM_018972.4

p.V148M

c.442G>A