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.S116*

c.347C>G

Surrounding Variants

1 paper

NM_173593.4

p.S116*

c.347C>A

1 paper

NM_173593.4

p.P113S

c.337C>T

1 paper

NM_173593.4

p.Y105F

c.314A>T

1 paper

NM_173593.4

p.S104N

c.311G>A

1 paper

NM_173593.4

p.S100fs

c.298_299fs

1 paper

NM_173593.4

p.V99insFs

c.296dupT

1 paper

NM_173593.4

p.Q97P

c.290A>C

1 paper

NM_173593.4

p.D96Y

c.286G>T

1 paper

NM_173593.4

p.H93Y

c.277C>T

1 paper

NM_173593.4

p.L90V

c.268C>G

1 paper

NM_173593.4

p.Q86H

c.258G>C

1 paper

NM_173593.4

p.Q86H

c.258G>T