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

3 papers

NM_000153.4

p.D162E

c.486C>A

Surrounding Variants

2 papers

NM_000153.4

p.D162E

c.486C>G

2 papers

NM_000153.4

p.W163*

c.488G>A

1 paper

NM_000153.4

p.D162N

c.484G>A

1 paper

NM_000153.4

p.W163C

c.489G>T

1 paper

NM_000153.4

p.W163C

c.489G>C

2 papers

NM_000153.4

p.W163*

c.489G>A

1 paper

NM_000153.4

p.F161F

c.483C>T

1 paper

NM_000153.4

p.F161L

c.483C>G

1 paper

NM_000153.4

p.F161L

c.483C>A

1 paper

NM_000153.4

p.F161S

c.482T>C

1 paper

NM_000153.4

p.P164T

c.490C>A

1 paper

NM_000153.4

p.F161L

c.481T>C