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

10 papers

NM_004482.4

p.H415Q

c.1245T>G

Surrounding Variants

9 papers

NM_004482.4

p.H415Q

c.1245T>A

1 paper

NM_004482.4

p.H415R

c.1244A>G

1 paper

NM_004482.4

p.R418C

c.1252C>T

1 paper

NM_004482.4

p.G403delFs

c.1209delC

1 paper

NM_004482.4

p.G402S

c.1204G>A

1 paper

NM_004482.4

p.C401R

c.1201T>C

13 papers

NM_004482.4

p.R438C

c.1312C>T

12 papers

NM_004482.4

p.R438H

c.1313G>A

4 papers

NM_004482.4

p.A440E

c.1319C>A

1 paper

NM_004482.4

p.K448T

c.1343A>C

1 paper

NM_004482.4

p.E449K

c.1345G>A

14 papers

NM_004482.4

p.K463*

c.1387A>T