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

1 paper

NM_003780.5

p.E318K

c.952G>A

Surrounding Variants

1 paper

NM_003780.5

p.R307H

c.920G>A

1 paper

NM_003780.5

p.G304R

c.910G>C

6 papers

NM_003780.5

p.I303I

c.909C>T

1 paper

NM_003780.5

p.S297L

c.890C>T

1 paper

NM_003780.5

p.G293A

c.878G>C

1 paper

NM_003780.5

p.D283N

c.847G>A

1 paper

NM_003780.5

p.W276*

c.827G>A

1 paper

NM_003780.5

p.G245S

c.733G>A

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.G231G

c.693C>T

1 paper

NM_003780.5

p.R229C

c.685C>T