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

Selected Variant

1 paper

NM_004776.4

p.K75M

c.224A>T

Surrounding Variants

1 paper

NM_004776.4

p.Q63*

c.187C>T

1 paper

NM_004776.4

p.A62D

c.185C>A

3 papers

NM_004776.4

p.G61S

c.181G>A

1 paper

NM_004776.4

p.D84D

c.252T>C

2 papers

NM_004776.4

p.T94I

c.281C>T

1 paper

NM_004776.4

p.T98A

c.292A>G

2 papers

NM_004776.4

p.T113N

c.338C>A