Varaico: Literature-Extracted Genetic Variants

B4GALNT3

96 papers

RefSeq Summary

B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et ...

Pfam Domains

PA14aa 156–276UCSCPA14 domain

CHGNaa 656–994UCSCChondroitin N-acetylgalactosaminyltransferase

Gene Aliases

HGNC Name

beta-1,4-N-acetyl-galactosaminyltransferase 3

HGNC Alias Symbols

B4GalNac-T3; FLJ16224; FLJ40362

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_173593.4

p.R579P

c.1736G>C

Surrounding Variants

1 paper

NM_173593.4

p.P583P

c.1749T>C

1 paper

NM_173593.4

p.E590K

c.1768G>A

1 paper

NM_173593.4

p.E591*

c.1771G>T

1 paper

NM_173593.4

p.Q564L

c.1691A>T

2 papers

NM_173593.4

p.A595V

c.1784C>T

1 paper

NM_173593.4

p.A596D

c.1787C>A

1 paper

NM_173593.4

p.Q560L

c.1679A>T

1 paper

NM_173593.4

p.E607V

c.1820A>T

1 paper

NM_173593.4

p.E611fs

c.1831_1832fs

1 paper

NM_173593.4

p.P547S

c.1639C>T

1 paper

NM_173593.4

p.R545S

c.1635G>C

1 paper

NM_173593.4

p.R545S

c.1635G>T