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.L453L

c.1359T>C

Surrounding Variants

1 paper

NM_173593.4

p.R456R

c.1368A>G

1 paper

NM_173593.4

p.Q457L

c.1370A>T

1 paper

NM_173593.4

p.Q448*

c.1342C>T

3 papers

NM_173593.4

p.E441D

c.1323G>C

3 papers

NM_173593.4

p.E441D

c.1323G>T

1 paper

NM_173593.4

p.A467P

c.1399G>C

1 paper

NM_173593.4

p.E437K

c.1309G>A

1 paper

NM_173593.4

p.Q434*

c.1300C>T

1 paper

NM_173593.4

p.L475Q

c.1424T>A

1 paper

NM_173593.4

p.E484D

c.1452G>C

1 paper

NM_173593.4

p.E484D

c.1452G>T

1 paper

NM_173593.4

p.L487P

c.1460T>C