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.F303L

c.909T>G

Surrounding Variants

1 paper

NM_020474.4

p.F303L

c.909T>A

1 paper

NM_020474.4

p.F303L

c.907T>C

1 paper

NM_020474.4

p.W316L

c.947G>T

1 paper

NM_020474.4

p.T290S

c.869C>G

1 paper

NM_020474.4

p.T290S

c.868A>T

1 paper

NM_020474.4

p.E319Q

c.955G>C

1 paper

NM_020474.4

p.F325L

c.973T>C

1 paper

NM_020474.4

p.F325L

c.975T>A

1 paper

NM_020474.4

p.F325L

c.975T>G

1 paper

NM_020474.4

p.W328L

c.983G>T

1 paper

NM_020474.4

p.R347Q

c.1040G>A

1 paper

NM_020474.4

p.R368*

c.1102C>T