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

10 papers

NM_000153.4

p.P318A

c.952C>G

Surrounding Variants

11 papers

NM_000153.4

p.P318L

c.953C>T

11 papers

NM_000153.4

p.P318R

c.953C>G

1 paper

NM_000153.4

p.Y319H

c.955T>C

31 papers

NM_000153.4

p.Y319C

c.956A>G

1 paper

NM_000153.4

p.Q316*

c.946C>T

1 paper

NM_000153.4

p.Q316K

c.946C>A

5 papers

NM_000153.4

p.E315delFs

c.943delC

4 papers

NM_000153.4

p.E315fs

c.943_944fs

4 papers

NM_000153.4

p.Y314C

c.941A>G

1 paper

NM_000153.4

p.Y314H

c.940T>C

1 paper

NM_000153.4

p.C322fs

c.964_965fs

1 paper

NM_000153.4

p.C322Y

c.965G>A