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.E387D

c.1161G>C

Surrounding Variants

1 paper

NM_173593.4

p.E387D

c.1161G>T

1 paper

NM_173593.4

p.H389N

c.1165C>A

1 paper

NM_173593.4

p.K391N

c.1173A>C

1 paper

NM_173593.4

p.K391N

c.1173A>T

2 papers

NM_173593.4

p.R382C

c.1144C>T

1 paper

NM_173593.4

p.Y380C

c.1139A>G

1 paper

NM_173593.4

p.D379E

c.1137C>A

1 paper

NM_173593.4

p.D379E

c.1137C>G

1 paper

NM_173593.4

p.Y400H

c.1198T>C

1 paper

NM_173593.4

p.R403R

c.1207C>A

1 paper

NM_173593.4

p.H371Y

c.1111C>T

1 paper

NM_173593.4

p.F404V

c.1210T>G