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.M338I

c.1014G>C

Surrounding Variants

1 paper

NM_018972.4

p.M338I

c.1014G>A

1 paper

NM_018972.4

p.M338I

c.1014G>T

1 paper

NM_018972.4

p.L339insFs

c.1015_1016insT

1 paper

NM_018972.4

p.R341_R343del3

c.1021_1028del9

1 paper

NM_018972.4

p.R341_L344del4

c.1021_1031del12

1 paper

NM_018972.4

p.R341fs

c.1021_1022fs

3 papers

NM_018972.4

p.A336S

c.1006G>T

2 papers

NM_018972.4

p.K342_G345del4

c.1024_1034del12

7 papers

NM_018972.4

p.L344R

c.1031T>G

1 paper

NM_018972.4

p.G345D

c.1034G>A

2 papers

NM_018972.4

p.S346N

c.1037G>A

5 papers

NM_018972.4

p.L349_A350insT

c.1045_1049ins3