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

1–12 of 131 variants

52 papers

NM_007255.3

p.R270C

c.808C>T

29 papers

NM_007255.3

p.A186D

c.557C>A

25 papers

NM_007255.3

p.L206P

c.617T>C

13 papers

NM_007255.3

p.L41P

c.122T>C

12 papers

NM_007255.3

p.H93insFs

c.277dupC

11 papers

NM_007255.3

p.R141W

c.421C>T

9 papers

NM_007255.3

p.C214Y

c.641G>A

7 papers

NM_007255.3

p.C324S

c.970T>A

7 papers

NM_007255.3

p.C324S

c.971G>C

6 papers

NM_007255.3

p.H93fs

c.277_278fs

4 papers

NM_007255.3

p.E277*

c.829G>T

3 papers

NM_007255.3

p.R17K

c.50G>A