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

1 paper

NM_052917.4

p.T254T

c.762T>G

Surrounding Variants

1 paper

NM_052917.4

p.M253K

c.758T>A

1 paper

NM_052917.4

p.M248V

c.742A>G

1 paper

NM_052917.4

p.R265S

c.793C>A

1 paper

NM_052917.4

p.R272T

c.815G>C

2 papers

NM_052917.4

p.E273*

c.817G>T

1 paper

NM_052917.4

p.K278R

c.833A>G

1 paper

NM_052917.4

p.P284H

c.851C>A

1 paper

NM_052917.4

p.R286S

c.858G>C

1 paper

NM_052917.4

p.R286S

c.858G>T

1 paper

NM_052917.4

p.D228N

c.682G>A

1 paper

NM_052917.4

p.A223fs

c.667_668fs

1 paper

NM_052917.4

p.T205P

c.613A>C