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.Y244F

c.731A>T

Surrounding Variants

1 paper

NM_173593.4

p.S238T

c.712T>A

1 paper

NM_173593.4

p.E253A

c.758A>C

1 paper

NM_173593.4

p.E254A

c.761A>C

1 paper

NM_173593.4

p.V259M

c.775G>A

1 paper

NM_173593.4

p.E260K

c.778G>A

1 paper

NM_173593.4

p.E260Q

c.778G>C

1 paper

NM_173593.4

p.A262V

c.785C>T

1 paper

NM_173593.4

p.R264*

c.790C>T

2 papers

NM_173593.4

p.R265Q

c.794G>A

1 paper

NM_173593.4

p.N266S

c.797A>G

1 paper

NM_173593.4

p.S277F

c.830C>T

1 paper

NM_173593.4

p.L282F

c.844C>T