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

1–12 of 135 variants

20 papers

NM_004481.5

p.D314A

c.941A>C

5 papers

NM_004481.5

p.Q216H

c.648A>C

5 papers

NM_004481.5

p.Q216H

c.648A>T

5 papers

NM_004481.5

p.Q289*

c.865C>T

5 papers

NM_004481.5

p.V554M

c.1660G>A

4 papers

NM_004481.5

p.F104S

c.311T>C

2 papers

NM_004481.5

p.Y99insFs

c.296dupA

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.R113Q

c.338G>A

2 papers

NM_004481.5

p.D115N

c.343G>A

2 papers

NM_004481.5

p.Q125Splc

c.375-24A>G