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.G613insFs

c.1837_1838insA

Surrounding Variants

2 papers

NM_000153.4

p.G613insFs

c.1837_1838insT

1 paper

NM_000153.4

p.A612Splc

c.1835-1G>A

1 paper

NM_000153.4

p.I615V

c.1843A>G

1 paper

NM_000153.4

p.I616V

c.1846A>G

3 papers

NM_000153.4

p.Y617*

c.1851T>G

3 papers

NM_000153.4

p.Y617*

c.1851T>A

2 papers

NM_000153.4

p.Y617delFs

c.1851delA

1 paper

NM_000153.4

p.I616_A618delFs

c.1848_1852del5

1 paper

NM_000153.4

p.G613_Y617del5

c.1837_1850del15

1 paper

NM_000153.4

p.L619S

c.1856T>C

2 papers

NM_000153.4

p.L619delFs

c.1856delA

2 papers

NM_000153.4

p.G620R

c.1858G>C