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

1 paper

NM_003779.4

p.S27delFs

c.80delG

Surrounding Variants

1 paper

NM_003779.4

p.S27fs

c.79_80fs

1 paper

NM_003779.4

p.F31Y

c.92T>A

1 paper

NM_003779.4

p.T11T

c.33G>A

1 paper

NM_003779.4

p.P44P

c.132G>A

1 paper

NM_003779.4

p.R3W

c.7C>T

1 paper

NM_003779.4

p.G67delFs

c.200delC

1 paper

NM_003779.4

p.P69T

c.205C>A

1 paper

NM_003779.4

p.P75L

c.224C>T

1 paper

NM_003779.4

p.R80Q

c.239G>A

1 paper

NM_003779.4

p.L84S

c.251T>C

1 paper

NM_003779.4

p.S89S

c.267G>A

3 papers

NM_003779.4

p.E103K

c.307G>A