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.V61L

c.181G>C

Surrounding Variants

1 paper

NM_007255.3

p.Q66Q

c.198G>A

1 paper

NM_007255.3

p.L49delFs

c.145delC

1 paper

NM_007255.3

p.R73R

c.219T>C

1 paper

NM_007255.3

p.C75*

c.225C>A

1 paper

NM_007255.3

p.P79Q

c.236C>A

13 papers

NM_007255.3

p.L41P

c.122T>C

1 paper

NM_007255.3

p.P81P

c.243T>G

1 paper

NM_007255.3

p.S40T

c.118T>A

1 paper

NM_007255.3

p.E85_L95del11

c.253_284del33

1 paper

NM_007255.3

p.F32I

c.94T>A

12 papers

NM_007255.3

p.H93insFs

c.277dupC

1 paper

NM_007255.3

p.H93insFs

c.277_278insCC