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.D522E

c.1566C>G

Surrounding Variants

1 paper

NM_000153.4

p.D522E

c.1566C>A

1 paper

NM_000153.4

p.P523S

c.1567C>T

1 paper

NM_000153.4

p.P523T

c.1567C>A

1 paper

NM_000153.4

p.G524G

c.1572C>T

4 papers

NM_000153.4

p.E525K

c.1573G>A

1 paper

NM_000153.4

p.H526R

c.1577A>G

1 paper

NM_000153.4

p.T518delFs

c.1552delT

1 paper

NM_000153.4

p.T518A

c.1552A>G

40 papers

NM_000153.4

p.T529M

c.1586C>T

1 paper

NM_000153.4

p.T529K

c.1586C>A

2 papers

NM_000153.4

p.L530P

c.1589T>C

1 paper

NM_000153.4

p.E515K

c.1543G>A