Varaico: Literature-Extracted Genetic Variants

B4GALT3

54 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 77–210UCSCN-terminal region of glycosyl transferase group 7

Glyco_transf_7Caa 215–292UCSCN-terminal domain of galactosyltransferase

Gene Aliases

HGNC Name

beta-1,4-galactosyltransferase 3

HGNC Alias Symbol

beta4Gal-T3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003779.4

p.H194H

c.582C>T

Surrounding Variants

1 paper

NM_003779.4

p.H194Y

c.580C>T

5 papers

NM_003779.4

p.L198L

c.594C>T

1 paper

NM_003779.4

p.E181E

c.543G>A

1 paper

NM_003779.4

p.R212Q

c.635G>A

2 papers

NM_003779.4

p.N176N

c.528C>T

1 paper

NM_003779.4

p.S227Splc

c.680+1G>A

1 paper

NM_003779.4

p.S227Splc

c.681-2A>G

1 paper

NM_003779.4

p.S227Splc

c.681-1G>T

1 paper

NM_003779.4

p.Y233*

c.699C>G

1 paper

NM_003779.4

p.Y233*

c.699C>A

1 paper

NM_003779.4

p.Y245N

c.733T>A

1 paper

NM_003779.4

p.N253S

c.758A>G