Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.C300S

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
9 papers
NM_080605.4
p.C300S
c.899G>C
Surrounding Variants
9 papers
NM_080605.4
p.C300S
c.898T>A
1 paper
NM_080605.4
p.K301_R302insFs
c.901_904dup4
3 papers
NM_080605.4
p.K301_R307ins2
c.901_921dup21
1 paper
NM_080605.4
p.L299M
c.895C>A
1 paper
NM_080605.4
p.E303K
c.907G>A
1 paper
NM_080605.4
p.Q305*
c.913C>T
1 paper
NM_080605.4
p.R295C
c.883C>T
15 papers
NM_080605.4
p.S309T
c.925T>A
1 paper
NM_080605.4
p.S309S
c.927C>A
3 papers
NM_080605.4
p.Y310C
c.929A>G
1 paper
NM_080605.4
p.W314G
c.940T>G
1 paper
NM_080605.4
p.W314S
c.941G>C
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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."