Varaico: Literature-Extracted Genetic Variants

GALNT1

53 papers

RefSeq Summary

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in...

Pfam Domains

Glycos_transf_2aa 119–303UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 430–548UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 1

HGNC Alias Symbol

GalNAc-T1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 84 variants

3 papers

NM_020474.4

p.L20V

c.58T>G

2 papers

NM_020474.4

p.M1I

c.3G>A

2 papers

NM_020474.4

p.M1I

c.3G>C

2 papers

NM_020474.4

p.M1I

c.3G>T

2 papers

NM_020474.4

p.W17*

c.50G>A

2 papers

NM_020474.4

p.W17*

c.51G>A

2 papers

NM_020474.4

p.D46G

c.137A>G

2 papers

NM_020474.4

p.R142H

c.425G>A

2 papers

NM_020474.4

p.D444A

c.1331A>C

2 papers

NM_020474.4

p.R448K

c.1343G>A

2 papers

NM_020474.4

p.D484A

c.1451A>C

2 papers

NM_020474.4

p.D525A

c.1574A>C