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

2 papers

NM_020474.4

p.R142H

c.425G>A

Surrounding Variants

1 paper

NM_020474.4

p.S143P

c.427T>C

1 paper

NM_020474.4

p.H137Y

c.409C>T

1 paper

NM_020474.4

p.V123A

c.368T>C

1 paper

NM_020474.4

p.I122M

c.366T>G

1 paper

NM_020474.4

p.P166A

c.496C>G

1 paper

NM_020474.4

p.K172delFs

c.514delA

1 paper

NM_020474.4

p.K172fs

c.514_515fs

1 paper

NM_020474.4

p.K172R

c.515A>G

1 paper

NM_020474.4

p.R182G

c.544C>G

1 paper

NM_020474.4

p.A192G

c.575C>G

1 paper

NM_020474.4

p.C212S

c.634T>A

1 paper

NM_020474.4

p.C212S

c.635G>C