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.W331R

c.991T>C

Surrounding Variants

1 paper

NM_000153.4

p.W331R

c.991T>A

1 paper

NM_000153.4

p.P330P

c.990A>G

1 paper

NM_000153.4

p.E329G

c.986A>G

1 paper

NM_000153.4

p.E329*

c.985G>T

2 papers

NM_000153.4

p.G333R

c.997G>C

2 papers

NM_000153.4

p.G333R

c.997G>A

5 papers

NM_000153.4

p.Q328Q

c.984G>A

2 papers

NM_000153.4

p.Q328*

c.982C>T

4 papers

NM_000153.4

p.Y335C

c.1004A>G

2 papers

NM_000153.4

p.T326M

c.977C>T

7 papers

NM_000153.4

p.Y335*

c.1005C>G

7 papers

NM_000153.4

p.Y335*

c.1005C>A