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.V681A

c.2042T>C

Surrounding Variants

27 papers

NM_001201401.2

p.V658M

c.1972G>A

NM_000153.4

p.V681M

c.2041G>A

1 paper

NM_000153.4

p.L680P

c.2039T>C

1 paper

NM_000153.4

p.F679L

c.2035T>C

1 paper

NM_000153.4

p.T684A

c.2050A>G

1 paper

NM_000153.4

p.R685C

c.2053C>T

1 paper

NM_000153.4

p.R685S

c.2053C>A

1 paper

NM_000153.4

p.D677Y

c.2029G>T

2 papers

NM_000153.4

p.*686Q

c.2056T>C

2 papers

NM_000153.4

p.E672Q

c.2014G>C

1 paper

NM_000153.4

p.T668S

c.2003C>G

1 paper

NM_000153.4

p.T668S

c.2002A>T

1 paper

NM_000153.4

p.T668A

c.2002A>G