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.R649R

c.1945A>C

Surrounding Variants

1 paper

NM_173593.4

p.R641Q

c.1922G>A

1 paper

NM_173593.4

p.L665P

c.1994T>C

1 paper

NM_173593.4

p.E667A

c.2000A>C

1 paper

NM_173593.4

p.E672*

c.2014G>T

1 paper

NM_173593.4

p.V625L

c.1873G>C

1 paper

NM_173593.4

p.V625L

c.1873G>T

1 paper

NM_173593.4

p.E623K

c.1867G>A

1 paper

NM_173593.4

p.L678F

c.2034G>C

1 paper

NM_173593.4

p.L678F

c.2034G>T

1 paper

NM_173593.4

p.E616*

c.1846G>T

1 paper

NM_173593.4

p.E611fs

c.1831_1832fs

1 paper

NM_173593.4

p.E607V

c.1820A>T