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.T315M

c.944C>T

Surrounding Variants

1 paper

NM_003779.4

p.W314C

c.942G>T

1 paper

NM_003779.4

p.W314C

c.942G>C

1 paper

NM_003779.4

p.R309H

c.926G>A

1 paper

NM_003779.4

p.R309C

c.925C>T

2 papers

NM_003779.4

p.R329*

c.985C>T

1 paper

NM_003779.4

p.R350Q

c.1049G>A

2 papers

NM_003779.4

p.R356H

c.1067G>A

1 paper

NM_003779.4

p.Y357*

c.1071C>G

1 paper

NM_003779.4

p.Y357*

c.1071C>A

1 paper

NM_003779.4

p.P359R

c.1076C>G

1 paper

NM_003779.4

p.S362P

c.1084T>C

1 paper

NM_003779.4

p.S361_S362delins

c.1083_1084delinsTC