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

4 papers

NM_018972.4

p.P111H

c.332C>A

Surrounding Variants

1 paper

NM_018972.4

p.D112N

c.334G>A

3 papers

NM_018972.4

p.E114_S115delFs

c.341_344del4

1 paper

NM_018972.4

p.K113R

c.338A>G

1 paper

NM_018972.4

p.L109*

c.326T>A

1 paper

NM_018972.4

p.L109*

c.326T>G

1 paper

NM_018972.4

p.L109L

c.325T>C

5 papers

NM_018972.4

p.E114fs

c.340_341fs

1 paper

NM_018972.4

p.E114_S115del1

c.341_343delAAA

2 papers

NM_018972.4

p.E114_S115delFs

c.342_345del4

14 papers

NM_018972.4

p.M116T

c.347T>C

22 papers

NM_018972.4

p.M116R

c.347T>G

7 papers

NM_018972.4

p.Y117insFs

c.349dupT