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.G128R

c.382G>A

Surrounding Variants

1 paper

NM_000153.4

p.G128A

c.383G>C

1 paper

NM_000153.4

p.R127Q

c.380G>A

1 paper

NM_000153.4

p.Y129insFs

c.385_386insA

1 paper

NM_000153.4

p.Y129D

c.385T>G

14 papers

NM_000153.4

p.R127*

c.379C>T

1 paper

NM_000153.4

p.R127G

c.379C>G

4 papers

NM_000153.4

p.Y129*

c.387C>G

4 papers

NM_000153.4

p.Y129*

c.387C>A

1 paper

NM_000153.4

p.E130Q

c.388G>C

25 papers

NM_000153.4

p.E130K

c.388G>A

1 paper

NM_000153.4

p.W131R

c.391T>C

1 paper

NM_000153.4

p.W131R

c.391T>A