Varaico: Literature-Extracted Genetic Variants

GALNT4

48 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 138–321UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 444–574UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 4

HGNC Alias Symbol

GalNAc-T4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003774.5

p.D459H

c.1375G>C

Surrounding Variants

1 paper

NM_003774.5

p.I453I

c.1359C>T

1 paper

NM_003774.5

p.D464A

c.1391A>C

1 paper

NM_003774.5

p.G469S

c.1405G>A

1 paper

NM_003774.5

p.K429Fs

c.1285delinsCTFs

1 paper

NM_003774.5

p.N491D

c.1471A>G

1 paper

NM_003774.5

p.R416Q

c.1247G>A

5 papers

NM_003774.5

p.V506I

c.1516G>A

1 paper

NM_003774.5

p.Q509insFs

c.1525_1526insA

1 paper

NM_003774.5

p.K510fs

c.1528_1529fs

1 paper

NM_003774.5

p.N511insFs

c.1532dupA

1 paper

NM_003774.5

p.N517S

c.1550A>G

1 paper

NM_003774.5

p.P519S

c.1555C>T