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.F596L

c.1786T>C

Surrounding Variants

1 paper

NM_000153.4

p.F596fs

c.1786_1787fs

1 paper

NM_000153.4

p.F596S

c.1787T>C

1 paper

NM_000153.4

p.I595S

c.1784T>G

1 paper

NM_000153.4

p.F596L

c.1788C>G

1 paper

NM_000153.4

p.F596L

c.1788C>A

2 papers

NM_000153.4

p.F596delFs

c.1787delA

1 paper

NM_000153.4

p.F597L

c.1789T>C

1 paper

NM_000153.4

p.F597L

c.1791C>G

1 paper

NM_000153.4

p.F597L

c.1791C>A

8 papers

NM_000153.4

p.I599S

c.1796T>G

2 papers

NM_000153.4

p.A592S

c.1774G>T

1 paper

NM_000153.4

p.A601T

c.1801G>A