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

14 papers

NM_004482.4

p.Q592*

c.1774C>T

Surrounding Variants

10 papers

NM_004482.4

p.W589R

c.1765T>C

10 papers

NM_004482.4

p.W589R

c.1765T>A

1 paper

NM_004482.4

p.V583insFs

c.1748dupT

1 paper

NM_004482.4

p.T581S

c.1741A>T

11 papers

NM_004482.4

p.C574G

c.1720T>G

1 paper

NM_004482.4

p.Q570*

c.1708C>T

2 papers

NM_004482.4

p.Q566*

c.1696C>T

4 papers

NM_004482.4

p.C561S

c.1682G>C

3 papers

NM_004482.4

p.C561S

c.1681T>A

1 paper

NM_004482.4

p.R553W

c.1657C>T

1 paper

NM_004482.4

p.E545K

c.1633G>A

1 paper

NM_004482.4

p.Q542_Y543Splc

c.1627-12T>G