Varaico: Literature-Extracted Genetic Variants

GALNT6

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 180–366UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 497–619UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 6

HGNC Alias Symbol

GalNAc-T6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007210.4

p.A287T

c.859G>A

Surrounding Variants

1 paper

NM_007210.4

p.I298T

c.893T>C

1 paper

NM_007210.4

p.P311P

c.933C>G

1 paper

NM_007210.4

p.G315fs

c.943_944fs

1 paper

NM_007210.4

p.G315delFs

c.944_945delGC

1 paper

NM_007210.4

p.R342C

c.1024C>T

1 paper

NM_007210.4

p.R342H

c.1025G>A

1 paper

NM_007210.4

p.Y347D

c.1039T>G

1 paper

NM_007210.4

p.H271D

c.811C>G

1 paper

NM_007210.4

p.R246W

c.736C>T

1 paper

NM_007210.4

p.V241V

c.723G>A

2 papers

NM_007210.4

p.T353T

c.1059G>A

1 paper

NM_007210.4

p.R426C

c.1276C>T