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.V138Splc

c.412+4A>C

Surrounding Variants

1 paper

NM_001497.4

p.P135L

c.404C>T

2 papers

NM_001497.4

p.P131L

c.392C>T

1 paper

NM_001497.4

p.P120S

c.358C>T

1 paper

NM_001497.4

p.S116*

c.347C>A

1 paper

NM_001497.4

p.S112G

c.334A>G

1 paper

NM_001497.4

p.P108insFs

c.323_324insT

2 papers

NM_001497.4

p.S100P

c.298T>C

1 paper

NM_001497.4

p.L88L

c.262C>T

1 paper

NM_001497.4

p.P87S

c.259C>T

1 paper

NM_001497.4

p.P85Q

c.254C>A

1 paper

NM_001497.4

p.P84P

c.252G>A

1 paper

NM_001497.4

p.G80A

c.239G>C