Varaico: Literature-Extracted Genetic Variants

GALNT8

55 papers

RefSeq Summary

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in...

Pfam Domains

Glycos_transf_2aa 184–351UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 496–622UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 8

HGNC Alias Symbol

GALNAC-T8

Papers

RefSeq ID

Protein change

DNA change

1–12 of 61 variants

3 papers

NM_017417.2

p.G372W

c.1114G>T

2 papers

NM_017417.2

p.Y53D

c.157T>G

2 papers

NM_017417.2

p.R294Q

c.881G>A

1 paper

NM_017417.2

p.M1I

c.3G>A

1 paper

NM_017417.2

p.M1I

c.3G>C

1 paper

NM_017417.2

p.M1I

c.3G>T

1 paper

NM_017417.2

p.P46S

c.136C>T

1 paper

NM_017417.2

p.N50D

c.148A>G

1 paper

NM_017417.2

p.Q68*

c.202C>T

1 paper

NM_017417.2

p.M102I

c.306G>A

1 paper

NM_017417.2

p.M102I

c.306G>C

1 paper

NM_017417.2

p.M102I

c.306G>T