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

1 paper

NM_000153.4

p.T668A

c.2002A>G

Surrounding Variants

1 paper

NM_000153.4

p.T668S

c.2002A>T

10 papers

NM_000153.4

p.T668P

c.2002A>C

1 paper

NM_000153.4

p.T668S

c.2003C>G

2 papers

NM_000153.4

p.I666T

c.1997T>C

2 papers

NM_000153.4

p.E672Q

c.2014G>C

1 paper

NM_000153.4

p.W663*

c.1989G>A

1 paper

NM_000153.4

p.W663*

c.1988G>A

1 paper

NM_000153.4

p.W663G

c.1987T>G

2 papers

NM_000153.4

p.G662A

c.1985G>C

1 paper

NM_000153.4

p.G662C

c.1984G>T

1 paper

NM_000153.4

p.K660N

c.1980G>T

1 paper

NM_000153.4

p.K660N

c.1980G>C