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.T625A

c.1873A>G

Surrounding Variants

1 paper

NM_000153.4

p.K627E

c.1879A>G

1 paper

NM_000153.4

p.V622I

c.1864G>A

1 paper

NM_000153.4

p.K628*

c.1882A>T

1 paper

NM_000153.4

p.K628fs

c.1882_1883fs

1 paper

NM_000153.4

p.R621H

c.1862G>A

2 papers

NM_000153.4

p.K628insFs

c.1884dupA

2 papers

NM_000153.4

p.K628delFs

c.1884delT

2 papers

NM_000153.4

p.W629fs

c.1885_1886fs

3 papers

NM_000153.4

p.R621C

c.1861C>T

1 paper

NM_000153.4

p.W629L

c.1886G>T

1 paper

NM_000153.4

p.W629fs

c.1885_1886fs

1 paper

NM_000153.4

p.A618_L619del2

c.1852_1856del6