Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.R115W

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.R115W
c.343C>T
Surrounding Variants
2 papers
NM_080605.4
p.A114E
c.341C>A
5 papers
NM_080605.4
p.D118delFs
c.353delA
7 papers
NM_080605.4
p.D118fs
c.352_353fs
1 paper
NM_080605.4
p.L122_P123ins0
c.365_367dupTGC
1 paper
NM_080605.4
p.L122del1
c.364_365delCTG
1 paper
NM_080605.4
p.R111W
c.331C>T
1 paper
NM_080605.4
p.L121insFs
c.362dupT
5 papers
NM_080605.4
p.A108fs
c.322_323fs
5 papers
NM_080605.4
p.A108_R115delFs
c.323_344del22
1 paper
NM_080605.4
p.A103V
c.308C>T
1 paper
NM_080605.4
p.D127N
c.379G>A
1 paper
NM_080605.4
p.Y129S
c.386A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."