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

1 paper

NM_003778.4

p.Q162R

c.485A>G

Surrounding Variants

1 paper

NM_003778.4

p.I157M

c.471C>G

1 paper

NM_003778.4

p.R131Q

c.392G>A

2 papers

NM_003778.4

p.V128I

c.382G>A

1 paper

NM_003778.4

p.V124V

c.372C>T

1 paper

NM_003778.4

p.Q122*

c.364C>T

4 papers

NM_003778.4

p.Q116E

c.346C>G

1 paper

NM_003778.4

p.R114C

c.340C>T

1 paper

NM_003778.4

p.Y113N

c.337T>A

1 paper

NM_003778.4

p.Q87H

c.261G>T

1 paper

NM_003778.4

p.Q87H

c.261G>C

1 paper

NM_003778.4

p.E164*

c.490G>T

1 paper

NM_003778.4

p.L173L

c.519C>T