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.G489R

c.1465G>C

Surrounding Variants

2 papers

NM_052917.4

p.G489R

c.1465G>A

1 paper

NM_052917.4

p.R486Fs

c.1457delinsGTFs

1 paper

NM_052917.4

p.D479N

c.1435G>A

1 paper

NM_052917.4

p.D478N

c.1432G>A

1 paper

NM_052917.4

p.R500T

c.1499G>C

1 paper

NM_052917.4

p.R476Q

c.1427G>A

1 paper

NM_052917.4

p.E506*

c.1516G>T

1 paper

NM_052917.4

p.Q465_V466Splc

c.1396-794T>A