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.D49N

c.145G>A

Surrounding Variants

1 paper

NM_000153.4

p.D49G

c.146A>G

2 papers

NM_000153.4

p.G50R

c.148G>A

1 paper

NM_000153.4

p.G50E

c.149G>A

1 paper

NM_000153.4

p.D46E

c.138C>G

1 paper

NM_000153.4

p.D46E

c.138C>A

17 papers

NM_000153.4

p.D46Y

c.136G>T

1 paper

NM_000153.4

p.D46H

c.136G>C

1 paper

NM_000153.4

p.G52fs

c.154_155fs

1 paper

NM_000153.4

p.G52A

c.155G>C

1 paper

NM_000153.4

p.L45L

c.135C>T

1 paper

NM_000153.4

p.G52delFs

c.155delC

3 papers

NM_000153.4

p.R53W

c.157C>T