Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.W314C

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.W314C
c.942G>C
Surrounding Variants
1 paper
NM_080605.4
p.W314C
c.942G>T
1 paper
NM_080605.4
p.W314S
c.941G>C
1 paper
NM_080605.4
p.W314G
c.940T>G
1 paper
NM_080605.4
p.P317S
c.949C>T
1 paper
NM_080605.4
p.P317Q
c.950C>A
1 paper
NM_080605.4
p.P317L
c.950C>T
3 papers
NM_080605.4
p.P318L
c.953C>T
3 papers
NM_080605.4
p.Y310C
c.929A>G
1 paper
NM_080605.4
p.S309S
c.927C>A
1 paper
NM_080605.4
p.Q320P
c.959A>C
15 papers
NM_080605.4
p.S309T
c.925T>A
1 paper
NM_080605.4
p.C322*
c.966C>A
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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."