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

Selected Variant

5 papers

NM_003780.5

p.Q122H

c.366G>T

Surrounding Variants

5 papers

NM_003780.5

p.Q122H

c.366G>C

1 paper

NM_003780.5

p.R120W

c.358C>T

1 paper

NM_003780.5

p.E111insFs

c.331_332ins22

1 paper

NM_003780.5

p.P141Q

c.422C>A

1 paper

NM_003780.5

p.A146V

c.437C>T

1 paper

NM_003780.5

p.P150S

c.448C>T

1 paper

NM_003780.5

p.G88del1

c.262_263delGGT

1 paper

NM_003780.5

p.G78R

c.232G>A

1 paper

NM_003780.5

p.G78R

c.232G>C

1 paper

NM_003780.5

p.N71delFs

c.213delC

1 paper

NM_003780.5

p.A72delFs

c.214_215delGC

1 paper

NM_003780.5

p.R69L

c.206G>T