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.S303Splc

c.908+1G>C

Surrounding Variants

6 papers

NM_000153.4

p.S303Splc

c.908+1G>A

7 papers

NM_000153.4

p.S303F

c.908C>T

NM_001201401.2

p.S280F

c.839C>T

7 papers

NM_000153.4

p.S303delFs

c.907delA

3 papers

NM_000153.4

p.S303Splc

c.908+5G>A

1 paper

NM_000153.4

p.T302S

c.905C>G

1 paper

NM_000153.4

p.T302S

c.904A>T

1 paper

NM_000153.4

p.M301K

c.902T>A

1 paper

NM_000153.4

p.N298S

c.893A>G

1 paper

NM_000153.4

p.I297N

c.890T>A

1 paper

NM_000153.4

p.Y296delFs

c.887delT

2 papers

NM_000153.4

p.Y296C

c.887A>G

1 paper

NM_000153.4

p.Y296H

c.886T>C