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.T608fs

c.1822_1823fs

Surrounding Variants

1 paper

NM_000153.4

p.V607insFs

c.1821dupT

2 papers

NM_000153.4

p.V607_G609insFs

c.1819_1826dup8

1 paper

NM_000153.4

p.R606K

c.1817G>A

1 paper

NM_000153.4

p.Y605fs

c.1813_1814fs

1 paper

NM_000153.4

p.Y605insFs

c.1814dupA

4 papers

NM_000153.4

p.D610A

c.1829A>C

4 papers

NM_000153.4

p.L611S

c.1832T>C

1 paper

NM_000153.4

p.S604Y

c.1811C>A

1 paper

NM_000153.4

p.G609_L611delFs

c.1827_1831del5

1 paper

NM_000153.4

p.G603*

c.1807G>T

3 papers

NM_000153.4

p.A612Splc

c.1834+5C>G

1 paper

NM_000153.4

p.A601T

c.1801G>A