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.L157fs

c.469_470fs

Surrounding Variants

4 papers

NM_000153.4

p.W156insFs

c.467_468dupGG

1 paper

NM_000153.4

p.L157M

c.469C>A

1 paper

NM_000153.4

p.L157P

c.470T>C

1 paper

NM_000153.4

p.W156R

c.466T>C

1 paper

NM_000153.4

p.W156R

c.466T>A

22 papers

NM_000153.4

p.P154H

c.461C>A

2 papers

NM_000153.4

p.G160A

c.479G>C

1 paper

NM_000153.4

p.F161L

c.481T>C

1 paper

NM_000153.4

p.F153I

c.457T>A

1 paper

NM_000153.4

p.F161S

c.482T>C

1 paper

NM_000153.4

p.F161F

c.483C>T

1 paper

NM_000153.4

p.F161L

c.483C>G