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.T652R

c.1955C>G

Surrounding Variants

13 papers

NM_000153.4

p.T652P

c.1954A>C

2 papers

NM_000153.4

p.W651*

c.1953G>A

2 papers

NM_000153.4

p.W651*

c.1952G>A

1 paper

NM_000153.4

p.L650P

c.1949T>C

1 paper

NM_000153.4

p.P655fs

c.1963_1964fs

1 paper

NM_000153.4

p.P655delFs

c.1964delG

1 paper

NM_000153.4

p.K648*

c.1942A>T

6 papers

NM_000153.4

p.L645R

c.1934T>G

1 paper

NM_000153.4

p.M644I

c.1932G>T

1 paper

NM_000153.4

p.M644I

c.1932G>C

1 paper

NM_000153.4

p.M644I

c.1932G>A

1 paper

NM_000153.4

p.K660N

c.1980G>T