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.L171L

c.511C>T

Surrounding Variants

7 papers

NM_018972.4

p.S169S

c.507T>G

2 papers

NM_018972.4

p.K173_L174insA

c.517_521ins3

2 papers

NM_018972.4

p.S169fs

c.505_506fs

3 papers

NM_018972.4

p.S169_L171delFs

c.505_511del7

1 paper

NM_018972.4

p.E168fs

c.502_503fs

1 paper

NM_018972.4

p.E168fs

c.502_503fs

1 paper

NM_018972.4

p.T167insFs

c.501dupA

1 paper

NM_018972.4

p.A175P

c.523G>C

1 paper

NM_018972.4

p.A175insFs

c.524_525insTT

1 paper

NM_018972.4

p.G165R

c.493G>C

1 paper

NM_018972.4

p.N178delFs

c.533delA

1 paper

NM_018972.4

p.N178fs

c.532_533fs