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

3 papers

NM_000153.4

p.W132*

c.395G>A

Surrounding Variants

4 papers

NM_000153.4

p.W132*

c.396G>A

1 paper

NM_000153.4

p.L133L

c.397T>C

3 papers

NM_000153.4

p.W131*

c.393G>A

1 paper

NM_000153.4

p.L133W

c.398T>G

3 papers

NM_000153.4

p.W131*

c.392G>A

1 paper

NM_000153.4

p.W131R

c.391T>C

1 paper

NM_000153.4

p.W131R

c.391T>A

1 paper

NM_000153.4

p.M134T

c.401T>C

1 paper

NM_000153.4

p.E130Q

c.388G>C

25 papers

NM_000153.4

p.E130K

c.388G>A

4 papers

NM_000153.4

p.Y129*

c.387C>G

4 papers

NM_000153.4

p.Y129*

c.387C>A