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

1 paper

NM_007255.3

p.C214R

c.640T>C

Surrounding Variants

9 papers

NM_007255.3

p.C214Y

c.641G>A

1 paper

NM_007255.3

p.R220C

c.658C>T

1 paper

NM_007255.3

p.F221Y

c.662T>A

1 paper

NM_007255.3

p.G223S

c.667G>A

1 paper

NM_007255.3

p.G223A

c.668G>C

1 paper

NM_007255.3

p.G225A

c.674G>C

1 paper

NM_007255.3

p.R226_D228Fs

c.676_682delinsGCTFs

1 paper

NM_007255.3

p.E227A

c.680A>C

1 paper

NM_007255.3

p.E227D

c.681G>C

1 paper

NM_007255.3

p.E227D

c.681G>T

1 paper

NM_007255.3

p.D228A

c.683A>C

1 paper

NM_007255.3

p.D228E

c.684C>A