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

1 paper

NM_004481.5

p.I168T

c.503T>C

Surrounding Variants

1 paper

NM_004481.5

p.P164P

c.492G>A

1 paper

NM_004481.5

p.E182insFs

c.544_545ins5

1 paper

NM_004481.5

p.L152P

c.455T>C

1 paper

NM_004481.5

p.A185S

c.553G>T

1 paper

NM_004481.5

p.R149S

c.447G>C

1 paper

NM_004481.5

p.G188E

c.563G>A

1 paper

NM_004481.5

p.E191G

c.572A>G

2 papers

NM_004481.5

p.H145D

c.433C>G

1 paper

NM_004481.5

p.R194*

c.580C>T

2 papers

NM_004481.5

p.R200*

c.598C>T

1 paper

NM_004481.5

p.A137T

c.409G>A

1 paper

NM_004481.5

p.P136L

c.407C>T