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

1–12 of 334 variants

80 papers

NM_018972.4

p.R120W

c.358C>T

69 papers

NM_018972.4

p.S194*

c.581C>G

68 papers

NM_018972.4

p.S194*

c.581C>A

51 papers

NM_018972.4

p.Q163*

c.487C>T

34 papers

NM_018972.4

p.H123R

c.368A>G

32 papers

NM_018972.4

p.L239F

c.715C>T

30 papers

NM_018972.4

p.R310Q

c.929G>A

29 papers

NM_018972.4

p.Q218E

c.652C>G

28 papers

NM_018972.4

p.R282C

c.844C>T

25 papers

NM_018972.4

p.R120Q

c.359G>A

25 papers

NM_018972.4

p.T157P

c.469A>C

25 papers

NM_018972.4

p.R161H

c.482G>A