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

2 papers

NM_004481.5

p.E334Q

c.1000G>C

Surrounding Variants

1 paper

NM_004481.5

p.N335H

c.1003A>C

1 paper

NM_004481.5

p.N335D

c.1003A>G

1 paper

NM_004481.5

p.N335S

c.1004A>G

1 paper

NM_004481.5

p.E319Q

c.955G>C

1 paper

NM_004481.5

p.F318Y

c.953T>A

1 paper

NM_004481.5

p.F318I

c.952T>A

20 papers

NM_004481.5

p.D314A

c.941A>C

1 paper

NM_004481.5

p.A299_P300delins

c.896_899delinsG

1 paper

NM_004481.5

p.A299T

c.895G>A

1 paper

NM_004481.5

p.R293Q

c.878G>A

5 papers

NM_004481.5

p.Q289*

c.865C>T

2 papers

NM_004481.5

p.T286T

c.858G>A