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.S40T

c.118T>A

Surrounding Variants

13 papers

NM_007255.3

p.L41P

c.122T>C

1 paper

NM_007255.3

p.F32I

c.94T>A

1 paper

NM_007255.3

p.L49delFs

c.145delC

1 paper

NM_007255.3

p.S30F

c.89C>T

1 paper

NM_007255.3

p.C29Y

c.86G>A

1 paper

NM_007255.3

p.C29_F32delFs

c.85_95del11

1 paper

NM_007255.3

p.L25I

c.73C>A

1 paper

NM_007255.3

p.G23G

c.69C>T

1 paper

NM_007255.3

p.V61L

c.181G>C

1 paper

NM_007255.3

p.S18S

c.54C>T

1 paper

NM_007255.3

p.Q66Q

c.198G>A

1 paper

NM_007255.3

p.R73R

c.219T>C