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.D56H

c.166G>C

Surrounding Variants

1 paper

NM_000153.4

p.F55L

c.165C>G

1 paper

NM_000153.4

p.F55L

c.165C>A

1 paper

NM_000153.4

p.F55L

c.163T>C

2 papers

NM_000153.4

p.G57C

c.169G>T

1 paper

NM_000153.4

p.G57R

c.169G>C

14 papers

NM_000153.4

p.G57S

c.169G>A

2 papers

NM_000153.4

p.E54K

c.160G>A

1 paper

NM_000153.4

p.I58T

c.173T>C

3 papers

NM_000153.4

p.R53Q

c.158G>A

8 papers

NM_000153.4

p.G59R

c.175G>C

1 paper

NM_000153.4

p.G59S

c.175G>A

3 papers

NM_000153.4

p.R53W

c.157C>T