Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.Y218F

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.Y218F
c.653A>T
Surrounding Variants
8 papers
NM_080605.4
p.G217S
c.649G>A
1 paper
NM_080605.4
p.L220F
c.658C>T
1 paper
NM_080605.4
p.Y212C
c.635A>G
1 paper
NM_080605.4
p.V225L
c.673G>C
1 paper
NM_080605.4
p.V225L
c.673G>T
1 paper
NM_080605.4
p.V225A
c.674T>C
4 papers
NM_080605.4
p.P211S
c.631C>T
1 paper
NM_080605.4
p.H226_L228Fs
c.676_682delinsGCTFs
1 paper
NM_080605.4
p.L230_R236del0
c.688_708del21
1 paper
NM_080605.4
p.L228L
c.682C>T
1 paper
NM_080605.4
p.R229H
c.686G>A
1 paper
NM_080605.4
p.D207N
c.619G>A
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