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.G22V

c.65G>T

Surrounding Variants

1 paper

NM_000153.4

p.G22A

c.65G>C

1 paper

NM_000153.4

p.G22D

c.65G>A

1 paper

NM_000153.4

p.G22S

c.64G>A

1 paper

NM_000153.4

p.S23A

c.67T>G

1 paper

NM_000153.4

p.A21fs

c.61_62fs

2 papers

NM_000153.4

p.S23*

c.68C>A

3 papers

NM_000153.4

p.A21delFs

c.61delC

7 papers

NM_000153.4

p.A21P

c.61G>C

1 paper

NM_000153.4

p.A21fs

c.61_62fs

1 paper

NM_000153.4

p.A20A

c.60C>T

1 paper

NM_000153.4

p.A20G

c.59C>G

1 paper

NM_000153.4

p.A20T

c.58G>A