Varaico: Literature-Extracted Genetic Variants

B4GALT2

53 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 97–231UCSCN-terminal region of glycosyl transferase group 7

Glyco_transf_7Caa 235–312UCSCN-terminal domain of galactosyltransferase

Gene Aliases

HGNC Name

beta-1,4-galactosyltransferase 2

HGNC Alias Symbol

beta4Gal-T2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 49 variants

6 papers

NM_003780.5

p.I303I

c.909C>T

5 papers

NM_003780.5

p.Q122H

c.366G>C

5 papers

NM_003780.5

p.Q122H

c.366G>T

2 papers

NM_003780.5

p.L5fs

c.13_14fs

2 papers

NM_003780.5

p.Q233H

c.699A>C

2 papers

NM_003780.5

p.Q233H

c.699A>T

1 paper

NM_003780.5

p.M1V

c.1A>G

1 paper

NM_003780.5

p.G7insFs

c.21dupG

1 paper

NM_003780.5

p.T8fs

c.22_23fs

1 paper

NM_003780.5

p.A15Fs

c.43delinsAGFs

1 paper

NM_003780.5

p.V28I

c.82G>A

1 paper

NM_003780.5

p.L30delFs

c.88delC