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

4 papers

NM_004481.5

p.F104S

c.311T>C

Surrounding Variants

1 paper

NM_004481.5

p.R101H

c.302G>A

2 papers

NM_004481.5

p.Y99*

c.297C>A

2 papers

NM_004481.5

p.Y99*

c.297C>G

2 papers

NM_004481.5

p.Y99insFs

c.296dupA

1 paper

NM_004481.5

p.D110delFs

c.330delT

2 papers

NM_004481.5

p.R113Q

c.338G>A

1 paper

NM_004481.5

p.G95R

c.283G>A

1 paper

NM_004481.5

p.R93R

c.279C>G

2 papers

NM_004481.5

p.D115N

c.343G>A

1 paper

NM_004481.5

p.V87I

c.259G>A

1 paper

NM_004481.5

p.Q125Splc

c.374+1G>A

1 paper

NM_004481.5

p.Q125Splc

c.374+11C>A