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

2 papers

NM_001497.4

p.E350E

c.1050A>G

Surrounding Variants

5 papers

NM_001497.4

p.N352S

c.1055A>G

1 paper

NM_001497.4

p.K348K

c.1044A>G

1 paper

NM_001497.4

p.P353S

c.1057C>T

1 paper

NM_001497.4

p.P353L

c.1058C>T

1 paper

NM_001497.4

p.P353R

c.1058C>G

1 paper

NM_001497.4

p.R345fs

c.1033_1034fs

3 papers

NM_001497.4

p.S344insFs

c.1031dupC

1 paper

NM_001497.4

p.M340I

c.1020G>T

1 paper

NM_001497.4

p.M340I

c.1020G>C

1 paper

NM_001497.4

p.M340I

c.1020G>A

1 paper

NM_001497.4

p.M340K

c.1019T>A

1 paper

NM_001497.4

p.R339H

c.1016G>A