Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.R171_E174delFs

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
5 papers
NM_080605.4
p.R171_E174delFs
c.513_520del8
Surrounding Variants
1 paper
NM_080605.4
p.L170fs
c.508_509fs
2 papers
NM_080605.4
p.R171C
c.511C>T
1 paper
NM_080605.4
p.E174_A176insFs
c.521_528dup8
2 papers
NM_080605.4
p.E169K
c.505G>A
1 paper
NM_080605.4
p.E174K
c.520G>A
1 paper
NM_080605.4
p.E174Q
c.520G>C
4 papers
NM_080605.4
p.E174fs
c.520_521fs
5 papers
NM_080605.4
p.E174D
c.522G>C
5 papers
NM_080605.4
p.E174D
c.522G>T
1 paper
NM_080605.4
p.A165T
c.493G>A
1 paper
NM_080605.4
p.R180_L181ins0
c.539_541dupGCC
3 papers
NM_080605.4
p.R179_L181ins1
c.536_541dup6
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