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

3 papers

NM_007255.3

p.R17K

c.50G>A

Surrounding Variants

1 paper

NM_007255.3

p.R17T

c.50G>C

1 paper

NM_007255.3

p.G16S

c.46G>A

2 papers

NM_007255.3

p.W13*

c.39G>A

2 papers

NM_007255.3

p.W13*

c.38G>A

2 papers

NM_007255.3

p.R6W

c.16A>T

1 paper

NM_007255.3

p.R5insFs

c.14dupG

2 papers

NM_007255.3

p.M1T

c.2T>C

1 paper

NM_007255.3

p.M1delins

c.3delinsTTTTAGATCCATATTTTAG

1 paper

NM_007255.3

p.M1V

c.1A>G

1 paper

NM_007255.3

p.M1insFs

c.1dupA

1 paper

NM_007255.3

p.S18S

c.54C>T

1 paper

NM_007255.3

p.G23G

c.69C>T