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

Selected Variant

1 paper

NM_001497.4

p.Y197C

c.590A>G

Surrounding Variants

1 paper

NM_001497.4

p.Y196_Y197delFs

c.587_591del5

1 paper

NM_001497.4

p.L195P

c.584T>C

1 paper

NM_001497.4

p.H199H

c.597C>T

2 papers

NM_001497.4

p.Y193*

c.579C>G

2 papers

NM_001497.4

p.Y193*

c.579C>A

1 paper

NM_001497.4

p.R204C

c.610C>T

2 papers

NM_001497.4

p.Q188R

c.563A>G

1 paper

NM_001497.4

p.I180V

c.538A>G

1 paper

NM_001497.4

p.V178G

c.533T>G

2 papers

NM_001497.4

p.V173I

c.517G>A

1 paper

NM_001497.4

p.R166C

c.496C>T

1 paper

NM_001497.4

p.R166S

c.496C>A