Varaico: Literature-Extracted Genetic Variants

B4GALT4

29 papers

RefSeq Summary

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galac...

Pfam Domains

Glyco_transf_7Naa 77–209UCSCN-terminal region of glycosyl transferase group 7

Glyco_transf_7Caa 213–290UCSCN-terminal domain of galactosyltransferase

Gene Aliases

HGNC Name

beta-1,4-galactosyltransferase 4

HGNC Alias Symbol

beta4Gal-T4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003778.4

p.Q242*

c.724C>T

Surrounding Variants

1 paper

NM_003778.4

p.Y253H

c.757T>C

1 paper

NM_003778.4

p.W256*

c.767G>A

1 paper

NM_003778.4

p.W256*

c.768G>A

1 paper

NM_003778.4

p.D261N

c.781G>A

1 paper

NM_003778.4

p.R266Splc

c.798-1G>A

1 paper

NM_003778.4

p.Y284Y

c.852T>C

1 paper

NM_003778.4

p.N298N

c.894C>T

1 paper

NM_003778.4

p.R301Splc

c.902+1G>T

1 paper

NM_003778.4

p.R225Splc

c.674+1G>T

1 paper

NM_003778.4

p.T222A

c.664A>G

1 paper

NM_003778.4

p.S221N

c.662G>A

3 papers

NM_003778.4

p.C208F

c.623G>T