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

Selected Variant

2 papers

NM_017417.2

p.R294Q

c.881G>A

Surrounding Variants

1 paper

NM_017417.2

p.R294W

c.880C>T

1 paper

NM_017417.2

p.T300A

c.898A>G

1 paper

NM_017417.2

p.F307L

c.919T>C

1 paper

NM_017417.2

p.F307L

c.921T>A

1 paper

NM_017417.2

p.F307L

c.921T>G

1 paper

NM_017417.2

p.W329C

c.987G>C

1 paper

NM_017417.2

p.W329C

c.987G>T

1 paper

NM_017417.2

p.R334L

c.1001G>T

1 paper

NM_017417.2

p.G359D

c.1076G>A

1 paper

NM_017417.2

p.N364N

c.1092C>T

1 paper

NM_017417.2

p.R365R

c.1095G>A

3 papers

NM_017417.2

p.G372W

c.1114G>T