Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.Y182H

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.Y182H
c.544T>C
Surrounding Variants
3 papers
NM_080605.4
p.Y182C
c.545A>G
1 paper
NM_080605.4
p.W183*
c.548G>A
1 paper
NM_080605.4
p.W183*
c.549G>A
1 paper
NM_080605.4
p.R180ins1
c.539_540insCCT
3 papers
NM_080605.4
p.F185C
c.554T>G
8 papers
NM_080605.4
p.F186L
c.556T>C
7 papers
NM_080605.4
p.F186L
c.558C>A
7 papers
NM_080605.4
p.F186L
c.558C>G
2 papers
NM_080605.4
p.R177P
c.530G>C
1 paper
NM_080605.4
p.R177fs
c.529_530fs
1 paper
NM_080605.4
p.S187*
c.560C>A
1 paper
NM_080605.4
p.R180_L181ins0
c.539_541dupGCC
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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."