Varaico: Literature-Extracted Genetic Variants

GALC

489 papers

RefSeq Summary

This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene h...

Pfam Domains

Glyco_hydro_59aa 55–349UCSCGlycosyl hydrolase family 59

Glyco_hydro_59Maa 357–473UCSCGlycosyl hydrolase family 59 central domain

Glyco_hydro_59_Caa 509–684UCSCGalactocerebrosidase, C-terminal lectin domain

Gene Aliases

HGNC Name

galactosylceramidase

HGNC Previous Name

galactosylceramidase (Krabbe disease)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

34 papers

NM_000153.4

p.R184C

c.550C>T

Surrounding Variants

1 paper

NM_000153.4

p.R184H

c.551G>A

2 papers

NM_000153.4

p.Y185*

c.555C>G

1 paper

NM_000153.4

p.Y185insFs

c.554dupA

1 paper

NM_000153.4

p.Y185*

c.555C>A

2 papers

NM_000153.4

p.A182T

c.544G>A

10 papers

NM_000153.4

p.D187V

c.560A>T

1 paper

NM_000153.4

p.D187G

c.560A>G

1 paper

NM_000153.4

p.V180M

c.538G>A

1 paper

NM_000153.4

p.I179S

c.536T>G

1 paper

NM_000153.4

p.W178*

c.534G>A

1 paper

NM_000153.4

p.W178S

c.533G>C

1 paper

NM_000153.4

p.W178*

c.533G>A