Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.R197fs

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
7 papers
NM_080605.4
p.R197fs
c.589_590fs
Surrounding Variants
3 papers
NM_080605.4
p.R197fs
c.589_590fs
4 papers
NM_080605.4
p.R197C
c.589C>T
1 paper
NM_080605.4
p.R197insFs
c.589_590insCC
1 paper
NM_080605.4
p.G196V
c.587G>T
1 paper
NM_080605.4
p.G196R
c.586G>A
1 paper
NM_080605.4
p.G196R
c.586G>C
2 papers
NM_080605.4
p.G196fs
c.586_587fs
2 papers
NM_080605.4
p.W198L
c.593G>T
1 paper
NM_080605.4
p.G195R
c.583G>A
2 papers
NM_080605.4
p.G195R
c.583G>C
1 paper
NM_080605.4
p.G195fs
c.583_584fs
2 papers
NM_080605.4
p.P194_G195insFs
c.582_583insT
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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."