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.R13L

c.38G>T

Surrounding Variants

1 paper

NM_000153.4

p.R13Q

c.38G>A

1 paper

NM_000153.4

p.A14T

c.40G>A

1 paper

NM_000153.4

p.R12delFs

c.35delC

4 papers

NM_000153.4

p.A14G

c.41C>G

1 paper

NM_000153.4

p.A14E

c.41C>A

2 papers

NM_000153.4

p.R12C

c.34C>T

2 papers

NM_000153.4

p.K15E

c.43A>G

2 papers

NM_000153.4

p.K15I

c.44A>T

1 paper

NM_000153.4

p.Q11R

c.32A>G

1 paper

NM_000153.4

p.Q11E

c.31C>G

1 paper

NM_000153.4

p.A8_W10del3

c.22_29del9

3 papers

NM_000153.4

p.W10R

c.28T>C