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

12 papers

NM_018972.4

p.G262delFs

c.786delG

Surrounding Variants

4 papers

NM_018972.4

p.G262fs

c.784_785fs

2 papers

NM_018972.4

p.G262E

c.785G>A

1 paper

NM_018972.4

p.F263fs

c.787_788fs

4 papers

NM_018972.4

p.F263fs

c.787_788fs

1 paper

NM_018972.4

p.A264delFs

c.791delC

1 paper

NM_018972.4

p.A264fs

c.790_791fs

2 papers

NM_018972.4

p.R257*

c.769C>T

21 papers

NM_018972.4

p.H256R

c.767A>G

1 paper

NM_018972.4

p.L255F

c.765G>C

1 paper

NM_018972.4

p.L255F

c.765G>T

3 papers

NM_018972.4

p.W268delFs

c.802_803delTG

1 paper

NM_018972.4

p.W268fs

c.802_803fs