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.Y43H

c.127T>C

Surrounding Variants

6 papers

NM_000153.4

p.Y43*

c.129C>G

5 papers

NM_000153.4

p.Y43*

c.129C>A

1 paper

NM_000153.4

p.V44M

c.130G>A

1 paper

NM_000153.4

p.G41A

c.122G>C

31 papers

NM_000153.4

p.G41S

c.121G>A

1 paper

NM_000153.4

p.L45L

c.135C>T

17 papers

NM_000153.4

p.D46Y

c.136G>T

1 paper

NM_000153.4

p.D46H

c.136G>C

1 paper

NM_000153.4

p.D46E

c.138C>G

1 paper

NM_000153.4

p.D46E

c.138C>A

1 paper

NM_000153.4

p.A38P

c.112G>C

1 paper

NM_000153.4

p.D49N

c.145G>A