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.L149W

c.446T>G

Surrounding Variants

1 paper

NM_000153.4

p.P150S

c.448C>T

1 paper

NM_000153.4

p.G148A

c.443G>C

2 papers

NM_000153.4

p.G148E

c.443G>A

2 papers

NM_000153.4

p.P150L

c.449C>T

3 papers

NM_000153.4

p.W151*

c.452G>A

2 papers

NM_000153.4

p.W151*

c.453G>A

1 paper

NM_000153.4

p.S152A

c.454T>G

1 paper

NM_000153.4

p.F153I

c.457T>A

22 papers

NM_000153.4

p.P154H

c.461C>A

1 paper

NM_000153.4

p.W156R

c.466T>C

1 paper

NM_000153.4

p.W156R

c.466T>A

2 papers

NM_000153.4

p.L157fs

c.469_470fs