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

2 papers

NM_007255.3

p.D163A

c.488A>C

Surrounding Variants

1 paper

NM_007255.3

p.D163E

c.489C>A

1 paper

NM_007255.3

p.D163E

c.489C>G

1 paper

NM_007255.3

p.V164A

c.491T>C

1 paper

NM_007255.3

p.D165A

c.494A>C

1 paper

NM_007255.3

p.M161T

c.482T>C

2 papers

NM_007255.3

p.M161_V164del0

c.483_491del9

1 paper

NM_007255.3

p.D165E

c.495C>A

1 paper

NM_007255.3

p.D165E

c.495C>G

2 papers

NM_007255.3

p.T156M

c.467C>T

1 paper

NM_007255.3

p.N154S

c.461A>G

1 paper

NM_007255.3

p.S152G

c.454A>G

1 paper

NM_007255.3

p.P178S

c.532C>T