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.R893W

c.2677C>T

Surrounding Variants

1 paper

NM_173593.4

p.G887A

c.2660G>C

1 paper

NM_173593.4

p.G899R

c.2695G>A

1 paper

NM_173593.4

p.G899R

c.2695G>C

1 paper

NM_173593.4

p.A914T

c.2740G>A

1 paper

NM_173593.4

p.T915fs

c.2743_2744fs

1 paper

NM_173593.4

p.T915delFs

c.2744delC

1 paper

NM_173593.4

p.P916S

c.2746C>T

1 paper

NM_173593.4

p.D870Y

c.2608G>T

1 paper

NM_173593.4

p.I865V

c.2593A>G

1 paper

NM_173593.4

p.R857H

c.2570G>A

1 paper

NM_173593.4

p.E856A

c.2567A>C

1 paper

NM_173593.4

p.S845Splc

c.2535-2A>T