Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6

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
1–12 of 216 variants
17 papers
NM_080605.4
p.R232C
c.694C>T
15 papers
NM_080605.4
p.S309T
c.925T>A
13 papers
NM_080605.4
p.P67L
c.200C>T
12 papers
NM_080605.4
p.S65G
c.193A>G
9 papers
NM_080605.4
p.R6W
c.16C>T
9 papers
NM_080605.4
p.D156N
c.466G>A
9 papers
NM_080605.4
p.R256W
c.766C>T
9 papers
NM_080605.4
p.C300S
c.898T>A
9 papers
NM_080605.4
p.C300S
c.899G>C
8 papers
NM_080605.4
p.T79A
c.235A>G
8 papers
NM_080605.4
p.F186L
c.556T>C
8 papers
NM_080605.4
p.D207H
c.619G>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."