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.N287S

c.860A>G

Surrounding Variants

1 paper

NM_004776.4

p.R284W

c.850C>T

1 paper

NM_004776.4

p.E281E

c.843A>G

1 paper

NM_004776.4

p.G273G

c.819C>T

1 paper

NM_004776.4

p.E270K

c.808G>A

1 paper

NM_004776.4

p.R210*

c.628C>T

1 paper

NM_004776.4

p.D320N

c.958G>A

1 paper

NM_004776.4

p.D320E

c.960C>G

1 paper

NM_004776.4

p.D320E

c.960C>A

2 papers

NM_004776.4

p.S326F

c.977C>T

1 paper

NM_004776.4

p.R192H

c.575G>A

1 paper

NM_004776.4

p.R190C

c.568C>T

1 paper

NM_004776.4

p.E175K

c.523G>A