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

1 paper

NM_173593.4

p.R708H

c.2123G>A

Surrounding Variants

1 paper

NM_173593.4

p.G706W

c.2116G>T

1 paper

NM_173593.4

p.R700L

c.2099G>T

1 paper

NM_173593.4

p.R724W

c.2170C>T

2 papers

NM_173593.4

p.R724Q

c.2171G>A

1 paper

NM_173593.4

p.Q692*

c.2074C>T

1 paper

NM_173593.4

p.Q690H

c.2070G>C

1 paper

NM_173593.4

p.Q690H

c.2070G>T

1 paper

NM_173593.4

p.S726S

c.2178G>A

2 papers

NM_173593.4

p.A731T

c.2191G>A

1 paper

NM_173593.4

p.R732L

c.2195G>T

1 paper

NM_173593.4

p.L750Q

c.2249T>A

1 paper

NM_173593.4

p.G752V

c.2255G>T