Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.K135N

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.K135N
c.405G>C
Surrounding Variants
1 paper
NM_080605.4
p.K135N
c.405G>T
2 papers
NM_080605.4
p.M139_A141del0
c.415_423del9
2 papers
NM_080605.4
p.L137Q
c.410T>A
1 paper
NM_080605.4
p.T133M
c.398C>T
1 paper
NM_080605.4
p.T133_A134delFs
c.398_401del4
1 paper
NM_080605.4
p.E130_T133insFs
c.390_397dup8
1 paper
NM_080605.4
p.E130_A134delFs
c.389_402del14
1 paper
NM_080605.4
p.Y129S
c.386A>C
1 paper
NM_080605.4
p.Y129C
c.386A>G
1 paper
NM_080605.4
p.L143P
c.428T>C
2 papers
NM_080605.4
p.D144N
c.430G>A
1 paper
NM_080605.4
p.D127N
c.379G>A
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