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.F278L

c.834C>G

Surrounding Variants

1 paper

NM_001497.4

p.F278L

c.834C>A

1 paper

NM_001497.4

p.F278L

c.832T>C

1 paper

NM_001497.4

p.S279Splc

c.836+1G>A

1 paper

NM_001497.4

p.C262R

c.784T>C

1 paper

NM_001497.4

p.A259G

c.776C>G

2 papers

NM_001497.4

p.H257R

c.770A>G

1 paper

NM_001497.4

p.D256V

c.767A>T

1 paper

NM_001497.4

p.P253A

c.757C>G

1 paper

NM_001497.4

p.L236S

c.707T>C

1 paper

NM_001497.4

p.E234insFs

c.701dupA

1 paper

NM_001497.4

p.L228F

c.682C>T

1 paper

NM_001497.4

p.G218V

c.653G>T