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.T570N

c.1709C>A

Surrounding Variants

4 papers

NM_000153.4

p.E569K

c.1705G>A

1 paper

NM_000153.4

p.I568V

c.1702A>G

2 papers

NM_000153.4

p.T573A

c.1717A>G

1 paper

NM_000153.4

p.T573insFs

c.1717dupA

24 papers

NM_000153.4

p.Y567S

c.1700A>C

1 paper

NM_000153.4

p.Y567D

c.1699T>G

1 paper

NM_000153.4

p.G574insFs

c.1720_1721insT

4 papers

NM_000153.4

p.V566V

c.1698A>T

2 papers

NM_000153.4

p.V566G

c.1697T>G

1 paper

NM_000153.4

p.G575fs

c.1723_1724fs

2 papers

NM_000153.4

p.G575insFs

c.1723_1724insT

1 paper

NM_000153.4

p.V576L

c.1726G>T