Varaico: Literature-Extracted Genetic Variants

Gene:B4GALT4
Variant:p.Q39Q

B4GALT4

29 papers

RefSeq Summary

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galac...

Pfam Domains

Glyco_transf_7Naa 77–209UCSCN-terminal region of glycosyl transferase group 7
Glyco_transf_7Caa 213–290UCSCN-terminal domain of galactosyltransferase

Gene Aliases

HGNC Name

beta-1,4-galactosyltransferase 4

HGNC Alias Symbol

beta4Gal-T4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003778.4
p.Q39Q
c.117A>G
Surrounding Variants
1 paper
NM_003778.4
p.F34F
c.102C>T
1 paper
NM_003778.4
p.M48V
c.142A>G
1 paper
NM_003778.4
p.N50S
c.149A>G
1 paper
NM_003778.4
p.I56V
c.166A>G
1 paper
NM_003778.4
p.L19*
c.56T>A
1 paper
NM_003778.4
p.T6A
c.16A>G
1 paper
NM_003778.4
p.L74L
c.222T>A
1 paper
NM_003778.4
p.C77C
c.231C>T
1 paper
NM_003778.4
p.Q87H
c.261G>T
1 paper
NM_003778.4
p.Q87H
c.261G>C
1 paper
NM_003778.4
p.Y113N
c.337T>A
1 paper
NM_003778.4
p.R114C
c.340C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."