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

1–12 of 43 variants

4 papers

NM_003778.4

p.Q116E

c.346C>G

3 papers

NM_003778.4

p.E200K

c.598G>A

3 papers

NM_003778.4

p.C208F

c.623G>T

2 papers

NM_003778.4

p.V128I

c.382G>A

2 papers

NM_003778.4

p.Q242*

c.724C>T

1 paper

NM_003778.4

p.T6A

c.16A>G

1 paper

NM_003778.4

p.L19*

c.56T>A

1 paper

NM_003778.4

p.F34F

c.102C>T

1 paper

NM_003778.4

p.Q39Q

c.117A>G

1 paper

NM_003778.4

p.M48V

c.142A>G

1 paper

NM_003778.4

p.N50S

c.149A>G

1 paper

NM_003778.4

p.I56V

c.166A>G