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.T112P

c.334A>C

Surrounding Variants

28 papers

NM_000153.4

p.T112A

c.334A>G

4 papers

NM_000153.4

p.G111D

c.332G>A

8 papers

NM_000153.4

p.G111S

c.331G>A

1 paper

NM_000153.4

p.D110D

c.330C>T

1 paper

NM_000153.4

p.D110E

c.330C>G

1 paper

NM_000153.4

p.D110E

c.330C>A

1 paper

NM_000153.4

p.E113E

c.339G>A

1 paper

NM_000153.4

p.P114P

c.342C>G

2 papers

NM_000153.4

p.H116H

c.348C>T

4 papers

NM_000153.4

p.M117L

c.349A>T

7 papers

NM_000153.4

p.M117V

c.349A>G

4 papers

NM_000153.4

p.M117L

c.349A>C