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

1–12 of 804 variants

92 papers

NM_000153.4

p.L634S

c.1901T>C

48 papers

NM_000153.4

p.I562T

c.1685T>C

44 papers

NM_000153.4

p.G286D

c.857G>A

40 papers

NM_000153.4

p.T529M

c.1586C>T

34 papers

NM_000153.4

p.R184C

c.550C>T

31 papers

NM_000153.4

p.G41S

c.121G>A

31 papers

NM_000153.4

p.Y319C

c.956A>G

28 papers

NM_000153.4

p.T112A

c.334A>G

26 papers

NM_000153.4

p.V681M

c.2041G>A

25 papers

NM_000153.4

p.E130K

c.388G>A

24 papers

NM_000153.4

p.Y567S

c.1700A>C

22 papers

NM_000153.4

p.P154H

c.461C>A