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

Selected Variant

1 paper

NM_020474.4

p.N440H

c.1318A>C

Surrounding Variants

1 paper

NM_020474.4

p.T439M

c.1316C>T

1 paper

NM_020474.4

p.D444H

c.1330G>C

2 papers

NM_020474.4

p.D444A

c.1331A>C

2 papers

NM_020474.4

p.R448K

c.1343G>A

1 paper

NM_020474.4

p.H460R

c.1379A>G

1 paper

NM_020474.4

p.D484N

c.1450G>A

2 papers

NM_020474.4

p.D484A

c.1451A>C

1 paper

NM_020474.4

p.P491L

c.1472C>T

1 paper

NM_020474.4

p.P510T

c.1528C>A

1 paper

NM_020474.4

p.C523S

c.1567T>A

1 paper

NM_020474.4

p.C523S

c.1568G>C

2 papers

NM_020474.4

p.D525A

c.1574A>C