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.S120C

c.358A>T

Surrounding Variants

1 paper

NM_007255.3

p.R121insFs

c.362dupG

1 paper

NM_007255.3

p.R116H

c.347G>A

1 paper

NM_007255.3

p.H114H

c.342C>T

1 paper

NM_007255.3

p.P113S

c.337C>T

1 paper

NM_007255.3

p.V130_Q133insFs

c.390_397dup8

1 paper

NM_007255.3

p.E107G

c.320A>G

1 paper

NM_007255.3

p.Q133fs

c.397_398fs

1 paper

NM_007255.3

p.E107Q

c.319G>C

3 papers

NM_007255.3

p.Q133R

c.398A>G

1 paper

NM_007255.3

p.F105F

c.315C>T

1 paper

NM_007255.3

p.R104L

c.311G>T

1 paper

NM_007255.3

p.E103K

c.307G>A