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

12 papers

NM_007255.3

p.H93insFs

c.277dupC

Surrounding Variants

1 paper

NM_007255.3

p.H93insFs

c.277_278insCC

1 paper

NM_007255.3

p.G91V

c.272G>T

2 papers

NM_007255.3

p.H93fs

c.277_278fs

3 papers

NM_007255.3

p.H93Y

c.277C>T

6 papers

NM_007255.3

p.H93fs

c.277_278fs

1 paper

NM_007255.3

p.H93insFs

c.278_279insC

1 paper

NM_007255.3

p.R94C

c.280C>T

1 paper

NM_007255.3

p.E85_L95del11

c.253_284del33

1 paper

NM_007255.3

p.V99V

c.297G>T

1 paper

NM_007255.3

p.P81P

c.243T>G

1 paper

NM_007255.3

p.R102C

c.304C>T

1 paper

NM_007255.3

p.E103K

c.307G>A