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.K139E

c.415A>G

Surrounding Variants

3 papers

NM_000153.4

p.A137_K138del1

c.411_413delTTA

2 papers

NM_000153.4

p.R140W

c.418A>T

5 papers

NM_000153.4

p.K139del1

c.415_416delCTT

2 papers

NM_000153.4

p.E136delFs

c.408delT

1 paper

NM_000153.4

p.N141T

c.422A>C

1 paper

NM_000153.4

p.P142T

c.424C>A

1 paper

NM_000153.4

p.M134T

c.401T>C

4 papers

NM_000153.4

p.I144fs

c.430_431fs

1 paper

NM_000153.4

p.I144L

c.430A>C

1 paper

NM_000153.4

p.I144T

c.431T>C

4 papers

NM_000153.4

p.I144delFs

c.430delT

1 paper

NM_000153.4

p.L133W

c.398T>G