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.D277E

c.831T>G

Surrounding Variants

1 paper

NM_004482.4

p.D277E

c.831T>A

1 paper

NM_004482.4

p.D277H

c.829G>C

1 paper

NM_004482.4

p.D277N

c.829G>A

1 paper

NM_004482.4

p.A278V

c.833C>T

1 paper

NM_004482.4

p.H279D

c.835C>G

14 papers

NM_004482.4

p.T272K

c.815C>A

1 paper

NM_004482.4

p.E271*

c.811G>T

1 paper

NM_004482.4

p.T269fs

c.805_806fs

4 papers

NM_004482.4

p.T269fs

c.805_806fs

11 papers

NM_004482.4

p.A268_T269insFs

c.804_805insC

1 paper

NM_004482.4

p.A268T

c.802G>A

1 paper

NM_004482.4

p.A260_T266del7

c.778_797del21