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.S62R

c.186C>A

Surrounding Variants

1 paper

NM_000153.4

p.S62R

c.186C>G

3 papers

NM_000153.4

p.G63D

c.188G>A

1 paper

NM_000153.4

p.S62R

c.184A>C

4 papers

NM_000153.4

p.A60T

c.178G>A

1 paper

NM_000153.4

p.G65E

c.194G>A

4 papers

NM_000153.4

p.G65G

c.195G>C

1 paper

NM_000153.4

p.G59delFs

c.175delC

1 paper

NM_000153.4

p.G65_A66Splc

c.195+1G>C

9 papers

NM_000153.4

p.G65_A66Splc

c.195+1G>A

8 papers

NM_000153.4

p.G59R

c.175G>C

1 paper

NM_000153.4

p.G59S

c.175G>A

1 paper

NM_000153.4

p.G59fs

c.175_176fs