Varaico: Literature-Extracted Genetic Variants

B4GALT7

133 papers

RefSeq Summary

This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor subst...

Pfam Domains

Glyco_transf_7Naa 80–177UCSCN-terminal region of glycosyl transferase group 7

Glyco_transf_7Caa 181–258UCSCN-terminal domain of galactosyltransferase

Gene Aliases

HGNC Name

beta-1,4-galactosyltransferase 7

HGNC Alias Symbols

XGALT-1; beta4Gal-T7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_007255.3

p.C324S

c.971G>C

Surrounding Variants

7 papers

NM_007255.3

p.C324S

c.970T>A

1 paper

NM_007255.3

p.T325delFs

c.974delC

1 paper

NM_007255.3

p.V309V

c.927C>G

1 paper

NM_007255.3

p.G304R

c.910G>A

1 paper

NM_007255.3

p.G304R

c.910G>C

1 paper

NM_007255.3

p.R297H

c.890G>A

1 paper

NM_007255.3

p.H293R

c.878A>G

1 paper

NM_007255.3

p.T289T

c.867T>C

2 papers

NM_007255.3

p.E277_Q278insC

c.829_833ins3

4 papers

NM_007255.3

p.E277*

c.829G>T

1 paper

NM_007255.3

p.E277del1

c.829_830delGAG

1 paper

NM_007255.3

p.A272T

c.814G>A