Varaico: Literature-Extracted Genetic Variants

B4GALT5

37 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 114–249UCSCN-terminal region of glycosyl transferase group 7

Glyco_transf_7Caa 253–330UCSCN-terminal domain of galactosyltransferase

Gene Aliases

HGNC Name

beta-1,4-galactosyltransferase 5

HGNC Alias Symbol

beta4GalT-V

Papers

RefSeq ID

Protein change

DNA change

1–12 of 36 variants

3 papers

NM_004776.4

p.G61S

c.181G>A

2 papers

NM_004776.4

p.T94I

c.281C>T

2 papers

NM_004776.4

p.T113N

c.338C>A

2 papers

NM_004776.4

p.S326F

c.977C>T

2 papers

NM_004776.4

p.Y371D

c.1111T>G

1 paper

NM_004776.4

p.A3D

c.8C>A

1 paper

NM_004776.4

p.G6G

c.18G>A

1 paper

NM_004776.4

p.L15L

c.45G>A

1 paper

NM_004776.4

p.F20F

c.60C>T

1 paper

NM_004776.4

p.A62D

c.185C>A

1 paper

NM_004776.4

p.Q63*

c.187C>T

1 paper

NM_004776.4

p.K75M

c.224A>T