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

2 papers

NM_007255.3

p.Y199*

c.597T>G

Surrounding Variants

2 papers

NM_007255.3

p.Y199*

c.597T>A

1 paper

NM_007255.3

p.L205P

c.614T>C

1 paper

NM_007255.3

p.Y194fs

c.580_581fs

2 papers

NM_007255.3

p.L206H

c.617T>A

25 papers

NM_007255.3

p.L206P

c.617T>C

1 paper

NM_007255.3

p.L206R

c.617T>G

1 paper

NM_007255.3

p.S207C

c.620C>G

1 paper

NM_007255.3

p.H191_P192delFs

c.573_576del4

1 paper

NM_007255.3

p.K208R

c.623A>G

2 papers

NM_007255.3

p.H210Y

c.628C>T

1 paper

NM_007255.3

p.P188R

c.563C>G

1 paper

NM_007255.3

p.R212W

c.634C>T