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

2 papers

NM_004776.4

p.Y371D

c.1111T>G

Surrounding Variants

1 paper

NM_004776.4

p.Y371C

c.1112A>G

1 paper

NM_004776.4

p.D368N

c.1102G>A

1 paper

NM_004776.4

p.T375T

c.1125T>G

1 paper

NM_004776.4

p.A363P

c.1087G>C

1 paper

NM_004776.4

p.N386N

c.1158C>T

1 paper

NM_004776.4

p.G352E

c.1055G>A

1 paper

NM_004776.4

p.A342V

c.1025C>T

1 paper

NM_004776.4

p.Y341insFs

c.1022dupA

2 papers

NM_004776.4

p.S326F

c.977C>T

1 paper

NM_004776.4

p.D320E

c.960C>G

1 paper

NM_004776.4

p.D320E

c.960C>A

1 paper

NM_004776.4

p.D320N

c.958G>A