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

1–12 of 210 variants

4 papers

NM_173593.4

p.G59S

c.175G>A

4 papers

NM_173593.4

p.K411R

c.1232A>G

3 papers

NM_173593.4

p.E441D

c.1323G>C

3 papers

NM_173593.4

p.E441D

c.1323G>T

2 papers

NM_173593.4

p.R265Q

c.794G>A

2 papers

NM_173593.4

p.R382C

c.1144C>T

2 papers

NM_173593.4

p.L453L

c.1359T>C

2 papers

NM_173593.4

p.R579P

c.1736G>C

2 papers

NM_173593.4

p.A595V

c.1784C>T

2 papers

NM_173593.4

p.R724Q

c.2171G>A

2 papers

NM_173593.4

p.A731T

c.2191G>A

2 papers

NM_173593.4

p.R844W

c.2530C>T