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

1 paper

NM_003774.5

p.M331L

c.991A>T

Surrounding Variants

1 paper

NM_003774.5

p.M331L

c.991A>C

1 paper

NM_003774.5

p.S317R

c.951C>G

1 paper

NM_003774.5

p.S317R

c.951C>A

1 paper

NM_003774.5

p.V345M

c.1033G>A

1 paper

NM_003774.5

p.S317R

c.949A>C

1 paper

NM_003774.5

p.S358P

c.1072T>C

1 paper

NM_003774.5

p.K366R

c.1097A>G

1 paper

NM_003774.5

p.T283S

c.847A>T

1 paper

NM_003774.5

p.W280C

c.840G>T

1 paper

NM_003774.5

p.W280C

c.840G>C

1 paper

NM_003774.5

p.I270T

c.809T>C

1 paper

NM_003774.5

p.R416Q

c.1247G>A