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.Y555*

c.1665C>G

Surrounding Variants

1 paper

NM_000153.4

p.Y555*

c.1665C>A

1 paper

NM_000153.4

p.Y555insFs

c.1664_1665insC

1 paper

NM_000153.4

p.N556S

c.1667A>G

1 paper

NM_000153.4

p.W557Splc

c.1670+1G>A

6 papers

NM_000153.4

p.G553E

c.1658G>A

15 papers

NM_000153.4

p.G553R

c.1657G>C

16 papers

NM_000153.4

p.G553R

c.1657G>A

1 paper

NM_000153.4

p.I552T

c.1655T>C

1 paper

NM_000153.4

p.I551N

c.1652T>A

1 paper

NM_000153.4

p.S550R

c.1650T>A

1 paper

NM_000153.4

p.S550G

c.1648A>G

1 paper

NM_000153.4

p.I549delFs

c.1647delG