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

1–12 of 61 variants

5 papers

NM_003779.4

p.L198L

c.594C>T

3 papers

NM_003779.4

p.E103K

c.307G>A

3 papers

NM_003779.4

p.R372H

c.1115G>A

2 papers

NM_003779.4

p.N176N

c.528C>T

2 papers

NM_003779.4

p.H194H

c.582C>T

2 papers

NM_003779.4

p.T315M

c.944C>T

2 papers

NM_003779.4

p.R329*

c.985C>T

2 papers

NM_003779.4

p.R356H

c.1067G>A

2 papers

NM_003779.4

p.R366H

c.1097G>A

1 paper

NM_003779.4

p.R3W

c.7C>T

1 paper

NM_003779.4

p.T11T

c.33G>A

1 paper

NM_003779.4

p.S27fs

c.79_80fs