Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.P36L

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.P36L
c.107C>T
Surrounding Variants
1 paper
NM_080605.4
p.G37R
c.109G>A
1 paper
NM_080605.4
p.G37R
c.109G>C
1 paper
NM_080605.4
p.G37E
c.110G>A
1 paper
NM_080605.4
p.R40K
c.119G>A
1 paper
NM_080605.4
p.A41V
c.122C>T
1 paper
NM_080605.4
p.R31C
c.91C>T
1 paper
NM_080605.4
p.S43L
c.128C>T
1 paper
NM_080605.4
p.L29Q
c.86T>A
1 paper
NM_080605.4
p.L29_C32delFs
c.85_95del11
3 papers
NM_080605.4
p.L26P
c.77T>C
1 paper
NM_080605.4
p.S46S
c.138C>T
1 paper
NM_080605.4
p.P49delFs
c.145delC
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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."