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.D229A

c.686A>C

Surrounding Variants

1 paper

NM_007255.3

p.D229E

c.687C>A

1 paper

NM_007255.3

p.D229E

c.687C>G

1 paper

NM_007255.3

p.D228E

c.684C>A

1 paper

NM_007255.3

p.D228E

c.684C>G

1 paper

NM_007255.3

p.D228A

c.683A>C

1 paper

NM_007255.3

p.E230A

c.689A>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.E227A

c.680A>C

1 paper

NM_007255.3

p.R226_D228Fs

c.676_682delinsGCTFs

1 paper

NM_007255.3

p.R233W

c.697C>T

1 paper

NM_007255.3

p.R233Q

c.698G>A