Varaico: Literature-Extracted Genetic Variants

GALNT5

67 papers

RefSeq Summary

The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosyl...

Pfam Domains

Glycos_transf_2aa 499–682UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 810–932UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 5

HGNC Alias Symbol

GalNAc-T5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014568.3

p.Q489H

c.1467G>T

Surrounding Variants

2 papers

NM_014568.3

p.Q489H

c.1467G>C

2 papers

NM_014568.3

p.L490P

c.1469T>C

1 paper

NM_014568.3

p.E488D

c.1464G>C

1 paper

NM_014568.3

p.E488D

c.1464G>T

3 papers

NM_014568.3

p.E507D

c.1521A>C

3 papers

NM_014568.3

p.E507D

c.1521A>T

1 paper

NM_014568.3

p.E564G

c.1691A>G

1 paper

NM_014568.3

p.G567C

c.1699G>T

1 paper

NM_014568.3

p.R570T

c.1709G>C