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.Y630*

c.1890T>G

Surrounding Variants

1 paper

NM_000153.4

p.Y630*

c.1890T>A

1 paper

NM_000153.4

p.W629fs

c.1885_1886fs

1 paper

NM_000153.4

p.W629L

c.1886G>T

2 papers

NM_000153.4

p.K628insFs

c.1884dupA

1 paper

NM_000153.4

p.L632P

c.1895T>C

2 papers

NM_000153.4

p.K628delFs

c.1884delT

2 papers

NM_000153.4

p.W629fs

c.1885_1886fs

2 papers

NM_000153.4

p.T633fs

c.1897_1898fs

1 paper

NM_000153.4

p.T633M

c.1898C>T

1 paper

NM_000153.4

p.K628*

c.1882A>T

1 paper

NM_000153.4

p.K628fs

c.1882_1883fs

1 paper

NM_000153.4

p.T633T

c.1899G>T