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.Y173H

c.517T>C

Surrounding Variants

1 paper

NM_000153.4

p.Y174fs

c.520_521fs

3 papers

NM_000153.4

p.Y174delFs

c.521delT

3 papers

NM_000153.4

p.L170P

c.509T>C

1 paper

NM_000153.4

p.V175V

c.525C>T

1 paper

NM_000153.4

p.V176M

c.526G>A

1 paper

NM_000153.4

p.Q169*

c.505C>T

3 papers

NM_001201401.2

p.T154N

c.461C>A

NM_000153.4

p.T177N

c.530C>A

15 papers

NM_000153.4

p.L168F

c.502C>T

1 paper

NM_000153.4

p.W178S

c.533G>C

1 paper

NM_000153.4

p.W178*

c.533G>A

1 paper

NM_000153.4

p.W178*

c.534G>A

1 paper

NM_000153.4

p.N167S

c.500A>G