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.G269R

c.805G>C

Surrounding Variants

1 paper

NM_018972.4

p.G269R

c.805G>A

1 paper

NM_018972.4

p.W268fs

c.802_803fs

2 papers

NM_018972.4

p.W268fs

c.802_803fs

3 papers

NM_018972.4

p.W268delFs

c.802_803delTG

10 papers

NM_018972.4

p.G271R

c.811G>A

10 papers

NM_018972.4

p.G271R

c.811G>C

9 papers

NM_018972.4

p.R273G

c.817C>G

1 paper

NM_018972.4

p.R273*

c.817C>T

1 paper

NM_018972.4

p.R273Q

c.818G>A

1 paper

NM_018972.4

p.P274A

c.820C>G

1 paper

NM_018972.4

p.A264delFs

c.791delC

1 paper

NM_018972.4

p.A264fs

c.790_791fs