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

2 papers

NM_000153.4

p.M325V

c.973A>G

Surrounding Variants

2 papers

NM_000153.4

p.M325L

c.973A>T

1 paper

NM_000153.4

p.M325L

c.973A>C

2 papers

NM_000153.4

p.T326M

c.977C>T

1 paper

NM_000153.4

p.G323W

c.967G>T

9 papers

NM_000153.4

p.G323R

c.967G>C

10 papers

NM_000153.4

p.G323R

c.967G>A

1 paper

NM_000153.4

p.C322Y

c.965G>A

2 papers

NM_000153.4

p.Q328*

c.982C>T

1 paper

NM_000153.4

p.C322fs

c.964_965fs

5 papers

NM_000153.4

p.Q328Q

c.984G>A

1 paper

NM_000153.4

p.E329*

c.985G>T

1 paper

NM_000153.4

p.E329G

c.986A>G