Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.Q204H

B3GALT6

125 papers

RefSeq Summary

The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates contai...

Pfam Domains

Galactosyl_Taa 71–260UCSCGalactosyltransferase

Gene Aliases

HGNC Name

beta-1,3-galactosyltransferase 6

HGNC Alias Symbol

beta3GalT6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080605.4
p.Q204H
c.612A>T
Surrounding Variants
1 paper
NM_080605.4
p.Q204H
c.612A>C
3 papers
NM_080605.4
p.C206W
c.618C>G
1 paper
NM_080605.4
p.D207N
c.619G>A
8 papers
NM_080605.4
p.D207H
c.619G>C
1 paper
NM_080605.4
p.E200D
c.600G>C
1 paper
NM_080605.4
p.E200D
c.600G>T
4 papers
NM_080605.4
p.P211S
c.631C>T
2 papers
NM_080605.4
p.W198L
c.593G>T
1 paper
NM_080605.4
p.Y212C
c.635A>G
3 papers
NM_080605.4
p.R197fs
c.589_590fs
4 papers
NM_080605.4
p.R197C
c.589C>T
7 papers
NM_080605.4
p.R197fs
c.589_590fs
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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."