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

4 papers

NM_004482.4

p.V249fs

c.745_746fs

Surrounding Variants

1 paper

NM_004482.4

p.V249fs

c.745_746fs

1 paper

NM_004482.4

p.R250fs

c.748_749fs

5 papers

NM_004482.4

p.V249_R250delFs

c.746_749del4

1 paper

NM_004482.4

p.G256R

c.766G>C

7 papers

NM_004482.4

p.G256V

c.767G>T

1 paper

NM_004482.4

p.K241Q

c.721A>C

1 paper

NM_004482.4

p.D237G

c.710A>G

2 papers

NM_004482.4

p.R261W

c.781C>T

6 papers

NM_004482.4

p.R261Q

c.782G>A

1 paper

NM_004482.4

p.V267F

c.799G>T

1 paper

NM_004482.4

p.A260_T266del7

c.778_797del21

1 paper

NM_004482.4

p.A268T

c.802G>A