Varaico: Literature-Extracted Genetic Variants

GALNT3

180 papers

RefSeq Summary

This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the fi...

Pfam Domains

Glycos_transf_2aa 188–374UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 505–627UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 3

HGNC Alias Symbols

GalNAc-T3; HHS; HFTC

Papers

RefSeq ID

Protein change

DNA change

1–12 of 169 variants

26 papers

NM_004482.4

p.R162*

c.484C>T

23 papers

NM_004482.4

p.Y508_I509Splc

c.1524+1G>A

16 papers

NM_004482.4

p.T359K

c.1076C>A

15 papers

NM_004482.4

p.E172Splc

c.516-2A>T

14 papers

NM_004482.4

p.T272K

c.815C>A

14 papers

NM_004482.4

p.K463*

c.1387A>T

14 papers

NM_004482.4

p.W487*

c.1461G>A

14 papers

NM_004482.4

p.Q592*

c.1774C>T

13 papers

NM_004482.4

p.C280Y

c.839G>A

13 papers

NM_004482.4

p.Y322*

c.966T>A

13 papers

NM_004482.4

p.L366R

c.1097T>G

13 papers

NM_004482.4

p.R438C

c.1312C>T