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.V310M

c.928G>A

Surrounding Variants

1 paper

NM_001201402.2

p.S286N

c.857G>A

1 paper

NM_000153.4

p.Y313C

c.938A>G

1 paper

NM_000153.4

p.Y314H

c.940T>C

2 papers

NM_000153.4

p.A306T

c.916G>A

4 papers

NM_000153.4

p.Y314C

c.941A>G

11 papers

NM_000153.4

p.I305V

c.913A>G

4 papers

NM_000153.4

p.E315fs

c.943_944fs

5 papers

NM_000153.4

p.E315delFs

c.943delC

1 paper

NM_000153.4

p.T304I

c.911C>T

1 paper

NM_000153.4

p.Q316*

c.946C>T

1 paper

NM_000153.4

p.Q316K

c.946C>A

13 papers

NM_000153.4

p.S303F

c.908C>T

NM_001201401.2

p.S280F

c.839C>T