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.Q169*

c.505C>T

Surrounding Variants

15 papers

NM_000153.4

p.L168F

c.502C>T

3 papers

NM_000153.4

p.L170P

c.509T>C

1 paper

NM_000153.4

p.N167S

c.500A>G

1 paper

NM_000153.4

p.V166A

c.497T>C

1 paper

NM_000153.4

p.Y173H

c.517T>C

1 paper

NM_000153.4

p.Y165H

c.493T>C

1 paper

NM_000153.4

p.Y174fs

c.520_521fs

1 paper

NM_000153.4

p.P164T

c.490C>A

1 paper

NM_000153.4

p.W163C

c.489G>T

1 paper

NM_000153.4

p.W163C

c.489G>C

2 papers

NM_000153.4

p.W163*

c.489G>A

3 papers

NM_000153.4

p.Y174delFs

c.521delT