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

Selected Variant

1 paper

NM_004482.4

p.L290V

c.868C>G

Surrounding Variants

1 paper

NM_004482.4

p.P289L

c.866C>T

1 paper

NM_004482.4

p.P289S

c.865C>T

1 paper

NM_004482.4

p.A292V

c.875C>T

1 paper

NM_004482.4

p.G285S

c.853G>A

4 papers

NM_004482.4

p.Y298fs

c.892_893fs

3 papers

NM_004482.4

p.Y298delFs

c.892delA

12 papers

NM_004482.4

p.E281G

c.842A>G

13 papers

NM_004482.4

p.C280Y

c.839G>A

1 paper

NM_004482.4

p.S320C

c.959C>G

1 paper

NM_004482.4

p.S320del1

c.958_959delAGA

12 papers

NM_004482.4

p.Y322*

c.966T>G

13 papers

NM_004482.4

p.Y322*

c.966T>A