Varaico: Literature-Extracted Genetic Variants

GALNT2

135 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involve...

Pfam Domains

Glycos_transf_2aa 139–322UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 446–563UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 2

HGNC Alias Symbol

GalNAc-T2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_004481.5

p.Q216H

c.648A>T

Surrounding Variants

5 papers

NM_004481.5

p.Q216H

c.648A>C

1 paper

NM_004481.5

p.T221I

c.662C>T

1 paper

NM_004481.5

p.A212T

c.634G>A

1 paper

NM_004481.5

p.L223L

c.667C>T

2 papers

NM_004481.5

p.R210P

c.629G>C

1 paper

NM_004481.5

p.R208Q

c.623G>A

1 paper

NM_004481.5

p.L234insFs

c.701dupT

1 paper

NM_004481.5

p.V248I

c.742G>A

2 papers

NM_004481.5

p.V249fs

c.745_746fs

1 paper

NM_004481.5

p.M258T

c.773T>C

1 paper

NM_004481.5

p.Q262*

c.784C>T

1 paper

NM_004481.5

p.Q262R

c.785A>G