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.Q520_K521Splc

c.1561-592A>C

Surrounding Variants

1 paper

NM_004481.5

p.Q520_K521Splc

c.1561-4G>A

2 papers

NM_004481.5

p.Q520_K521Splc

c.1561-1G>A

1 paper

NM_004481.5

p.K521Q

c.1561A>C

1 paper

NM_004481.5

p.R532W

c.1594A>T

1 paper

NM_004481.5

p.H533Y

c.1597C>T

1 paper

NM_004481.5

p.N537K

c.1611C>G

1 paper

NM_004481.5

p.T544_A545ins5

c.1630_1634ins15

1 paper

NM_004481.5

p.T544A

c.1630A>G

2 papers

NM_004481.5

p.G548W

c.1642G>T

1 paper

NM_004481.5

p.G549V

c.1646G>T

5 papers

NM_004481.5

p.V554M

c.1660G>A

1 paper

NM_004481.5

p.N516N

c.1548T>C