Varaico: Literature-Extracted Genetic Variants

GALNT13

68 papers

RefSeq Summary

The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (...

Pfam Domains

Glycos_transf_2aa 118–302UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 429–547UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 13

HGNC Alias Symbols

KIAA1918; GalNAc-T13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_052917.4

p.R426H

c.1277G>A

Surrounding Variants

1 paper

NM_052917.4

p.D420Y

c.1258G>T

1 paper

NM_052917.4

p.S411Y

c.1232C>A

1 paper

NM_052917.4

p.L405Q

c.1214T>A

1 paper

NM_052917.4

p.G386Splc

c.1157-3C>T