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

1–12 of 39 variants

5 papers

NM_003774.5

p.V506I

c.1516G>A

2 papers

NM_003774.5

p.P62S

c.184C>T

2 papers

NM_003774.5

p.Y64*

c.192T>G

2 papers

NM_003774.5

p.Y64*

c.192T>A

2 papers

NM_003774.5

p.D459H

c.1375G>C

1 paper

NM_003774.5

p.L13V

c.37C>G

1 paper

NM_003774.5

p.A34S

c.100G>T

1 paper

NM_003774.5

p.Y100C

c.299A>G

1 paper

NM_003774.5

p.L112P

c.335T>C

1 paper

NM_003774.5

p.C124R

c.370T>C

1 paper

NM_003774.5

p.S177N

c.530G>A

1 paper

NM_003774.5

p.S177S

c.531T>C