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.R264Q

c.791G>A

Surrounding Variants

1 paper

NM_007255.3

p.R264W

c.790C>T

1 paper

NM_007255.3

p.P261Q

c.782C>A

1 paper

NM_007255.3

p.H259H

c.777T>C

52 papers

NM_007255.3

p.R270C

c.808C>T

1 paper

NM_007255.3

p.A272T

c.814G>A

1 paper

NM_007255.3

p.F255_D267delFs

c.765_799del35

1 paper

NM_007255.3

p.G251E

c.752G>A

1 paper

NM_007255.3

p.T250N

c.749C>A

1 paper

NM_007255.3

p.R244H

c.731G>A

1 paper

NM_007255.3

p.Q241_L242Splc

c.723+4A>G

1 paper

NM_007255.3

p.Q241_L242Splc

c.723+1G>A

1 paper

NM_007255.3

p.R234H

c.701G>A