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

3 papers

NM_000153.4

p.G289R

c.865G>C

Surrounding Variants

1 paper

NM_000153.4

p.G289S

c.865G>A

3 papers

NM_000153.4

p.W288*

c.864G>A

3 papers

NM_000153.4

p.W288*

c.863G>A

2 papers

NM_000153.4

p.W288R

c.862T>C

2 papers

NM_000153.4

p.W288R

c.862T>A

7 papers

NM_000153.4

p.R290C

c.868C>T

1 paper

NM_000153.4

p.R290H

c.869G>A

5 papers

NM_000153.4

p.C287Y

c.860G>A

1 paper

NM_000153.4

p.R290R

c.870C>T

1 paper

NM_000153.4

p.I291T

c.872T>C

44 papers

NM_000153.4

p.G286D

c.857G>A

1 paper

NM_000153.4

p.G284_A285delFs

c.852_855del4