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

9 papers

NM_000153.4

p.G323R

c.967G>C

Surrounding Variants

1 paper

NM_000153.4

p.G323W

c.967G>T

10 papers

NM_000153.4

p.G323R

c.967G>A

1 paper

NM_000153.4

p.C322Y

c.965G>A

1 paper

NM_000153.4

p.C322fs

c.964_965fs

2 papers

NM_000153.4

p.M325L

c.973A>T

2 papers

NM_000153.4

p.M325V

c.973A>G

1 paper

NM_000153.4

p.M325L

c.973A>C

2 papers

NM_000153.4

p.T326M

c.977C>T

31 papers

NM_000153.4

p.Y319C

c.956A>G

1 paper

NM_000153.4

p.Y319H

c.955T>C

11 papers

NM_000153.4

p.P318L

c.953C>T

11 papers

NM_000153.4

p.P318R

c.953C>G