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

1–12 of 70 variants

2 papers

NM_052917.4

p.E273*

c.817G>T

2 papers

NM_052917.4

p.R426H

c.1277G>A

2 papers

NM_052917.4

p.G489R

c.1465G>A

2 papers

NM_052917.4

p.G489R

c.1465G>C

1 paper

NM_052917.4

p.R2M

c.5G>T

1 paper

NM_052917.4

p.F4F

c.12T>C

1 paper

NM_052917.4

p.W17G

c.49T>G

1 paper

NM_052917.4

p.L25V

c.73C>G

1 paper

NM_052917.4

p.F28I

c.82T>A

1 paper

NM_052917.4

p.C31Y

c.92G>A

1 paper

NM_052917.4

p.R40K

c.119G>A

1 paper

NM_052917.4

p.S41Y

c.122C>A