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

5 papers

NM_004482.4

p.E172Splc

c.516-2A>G

Surrounding Variants

15 papers

NM_004482.4

p.E172Splc

c.516-2A>T

3 papers

NM_004482.4

p.C173fs

c.517_518fs

1 paper

NM_004482.4

p.C173fs

c.517_518fs

1 paper

NM_004482.4

p.Q176R

c.527A>G

6 papers

NM_004482.4

p.R180H

c.539G>A

1 paper

NM_004482.4

p.C181W

c.543C>G

1 paper

NM_004482.4

p.A197V

c.590C>T

1 paper

NM_004482.4

p.T200A

c.598A>G

1 paper

NM_004482.4

p.A214T

c.640G>A

5 papers

NM_004482.4

p.I220N

c.659T>A

5 papers

NM_004482.4

p.A226fs

c.676_677fs

2 papers

NM_004482.4

p.A226V

c.677C>T