Varaico: Literature-Extracted Genetic Variants

B4GALT3

54 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 77–210UCSCN-terminal region of glycosyl transferase group 7

Glyco_transf_7Caa 215–292UCSCN-terminal domain of galactosyltransferase

Gene Aliases

HGNC Name

beta-1,4-galactosyltransferase 3

HGNC Alias Symbol

beta4Gal-T3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_003779.4

p.E103K

c.307G>A

Surrounding Variants

1 paper

NM_003779.4

p.V108I

c.322G>A

1 paper

NM_003779.4

p.G112D

c.335G>A

1 paper

NM_003779.4

p.Y114N

c.340T>A

1 paper

NM_003779.4

p.S89S

c.267G>A

1 paper

NM_003779.4

p.P121S

c.361C>T

1 paper

NM_003779.4

p.R124*

c.370C>T

1 paper

NM_003779.4

p.R134Q

c.401G>A

1 paper

NM_003779.4

p.L138L

c.412C>T

1 paper

NM_003779.4

p.Y143*

c.429C>G

1 paper

NM_003779.4

p.Y143*

c.429C>A

1 paper

NM_003779.4

p.L84S

c.251T>C

1 paper

NM_003779.4

p.R80Q

c.239G>A