Varaico: Literature-Extracted Genetic Variants

GALNT1

53 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 119–303UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 430–548UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 1

HGNC Alias Symbol

GalNAc-T1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020474.4

p.R347Q

c.1040G>A

Surrounding Variants

1 paper

NM_020474.4

p.W328L

c.983G>T

1 paper

NM_020474.4

p.R368*

c.1102C>T

1 paper

NM_020474.4

p.V372L

c.1114G>C

1 paper

NM_020474.4

p.V372L

c.1114G>T

1 paper

NM_020474.4

p.N379H

c.1135A>C

1 paper

NM_020474.4

p.F380L

c.1138T>C

1 paper

NM_020474.4

p.F380L

c.1140C>A

1 paper

NM_020474.4

p.F380L

c.1140C>G

1 paper

NM_020474.4

p.I384V

c.1150A>G

1 paper

NM_020474.4

p.S385Y

c.1154C>A

1 paper

NM_020474.4

p.G401D

c.1202G>A

1 paper

NM_020474.4

p.P410delFs

c.1230delT