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

1–12 of 44 variants

2 papers

NM_007210.4

p.V53I

c.157G>A

2 papers

NM_007210.4

p.L201L

c.603A>G

2 papers

NM_007210.4

p.T353T

c.1059G>A

1 paper

NM_007210.4

p.R7H

c.20G>A

1 paper

NM_007210.4

p.P10S

c.28C>T

1 paper

NM_007210.4

p.S32N

c.95G>A

1 paper

NM_007210.4

p.W42S

c.125G>C

1 paper

NM_007210.4

p.K70R

c.209A>G

1 paper

NM_007210.4

p.L99R

c.296T>G

1 paper

NM_007210.4

p.R105W

c.313C>T

1 paper

NM_007210.4

p.S147_D148delFs

c.441_442delCG

1 paper

NM_007210.4

p.R161L

c.482G>T