Varaico: Literature-Extracted Genetic Variants

GDAP1L1

29 papers

RefSeq Summary

The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes ...

Pfam Domains

GST_N_2aa 55–121UCSCGlutathione S-transferase, N-terminal domain

GST_C_2aa 213–304UCSCGlutathione S-transferase, C-terminal domain

Gene Aliases

HGNC Name

ganglioside induced differentiation associated protein 1 like 1

HGNC Previous Name

ganglioside induced differentiation associated protein 1-like 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024034.6

p.G254R

c.760G>A

Surrounding Variants

1 paper

NM_024034.6

p.E253K

c.757G>A

1 paper

NM_024034.6

p.R248W

c.742A>T

1 paper

NM_024034.6

p.A243A

c.729G>A

1 paper

NM_024034.6

p.A243V

c.728C>T

1 paper

NM_024034.6

p.A235V

c.704C>T

1 paper

NM_024034.6

p.E233*

c.697G>T

1 paper

NM_024034.6

p.L219L

c.657G>A

1 paper

NM_024034.6

p.Q211E

c.631C>G

1 paper

NM_024034.6

p.H159_G160delFs

c.477_480del4

1 paper

NM_024034.6

p.T158_H159insFs

c.474_475ins4

1 paper

NM_024034.6

p.R141W

c.421C>T

1 paper

NM_024034.6

p.P132L

c.395C>T