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.Q532H

c.1596A>T

Surrounding Variants

1 paper

NM_000153.4

p.Q532H

c.1596A>C

19 papers

NM_000153.4

p.R531H

c.1592G>A

5 papers

NM_000153.4

p.R531C

c.1591C>T

1 paper

NM_000153.4

p.L534L

c.1602C>T

1 paper

NM_000153.4

p.L534L

c.1602C>A

2 papers

NM_000153.4

p.L530P

c.1589T>C

1 paper

NM_000153.4

p.N535S

c.1604A>G

40 papers

NM_000153.4

p.T529M

c.1586C>T

1 paper

NM_000153.4

p.T529K

c.1586C>A

1 paper

NM_000153.4

p.H526R

c.1577A>G

2 papers

NM_000153.4

p.I539T

c.1616T>C

4 papers

NM_000153.4

p.E525K

c.1573G>A