Varaico: Literature-Extracted Genetic Variants

B4GALT1

84 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 130–263UCSCN-terminal region of glycosyl transferase group 7

Glyco_transf_7Caa 267–344UCSCN-terminal domain of galactosyltransferase

Gene Aliases

HGNC Name

beta-1,4-galactosyltransferase 1

HGNC Previous Symbol

GGTB2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 80 variants

5 papers

NM_001497.4

p.N352S

c.1055A>G

3 papers

NM_001497.4

p.R21W

c.61C>T

3 papers

NM_001497.4

p.S344insFs

c.1031dupC

2 papers

NM_001497.4

p.S100P

c.298T>C

2 papers

NM_001497.4

p.P131L

c.392C>T

2 papers

NM_001497.4

p.V138Splc

c.412+4A>C

2 papers

NM_001497.4

p.V173I

c.517G>A

2 papers

NM_001497.4

p.Q188R

c.563A>G

2 papers

NM_001497.4

p.Y193*

c.579C>G

2 papers

NM_001497.4

p.Y193*

c.579C>A

2 papers

NM_001497.4

p.H257R

c.770A>G

2 papers

NM_001497.4

p.E350E

c.1050A>G