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

12 papers

NM_004482.4

p.S368insFs

c.1102_1103insT

Surrounding Variants

1 paper

NM_004482.4

p.S368F

c.1103C>T

4 papers

NM_004482.4

p.S368fs

c.1102_1103fs

13 papers

NM_004482.4

p.L366R

c.1097T>G

1 paper

NM_004482.4

p.L366P

c.1097T>C

1 paper

NM_004482.4

p.G365del1

c.1093_1094delTCC

1 paper

NM_004482.4

p.G364R

c.1090G>C

1 paper

NM_004482.4

p.G364R

c.1090G>A

1 paper

NM_004482.4

p.E372del1

c.1114_1116delTTC

3 papers

NM_004482.4

p.E375*

c.1123G>T

1 paper

NM_004482.4

p.P360L

c.1079C>T

16 papers

NM_004482.4

p.T359K

c.1076C>A

1 paper

NM_004482.4

p.G388V

c.1163G>T