Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.S65G

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
12 papers
NM_080605.4
p.S65G
c.193A>G
Surrounding Variants
13 papers
NM_080605.4
p.P67L
c.200C>T
1 paper
NM_080605.4
p.L62P
c.185T>C
1 paper
NM_080605.4
p.A70_R73delFs
c.210_219del10
3 papers
NM_080605.4
p.V61L
c.181G>C
3 papers
NM_080605.4
p.V61L
c.181G>T
2 papers
NM_080605.4
p.V61fs
c.181_182fs
1 paper
NM_080605.4
p.V61Fs
c.181delinsAAAGAGCTCCTAAAGGGFs
1 paper
NM_080605.4
p.A60delFs
c.180delA
1 paper
NM_080605.4
p.L59V
c.175C>G
1 paper
NM_080605.4
p.E71fs
c.211_212fs
1 paper
NM_080605.4
p.R73L
c.218G>T
1 paper
NM_080605.4
p.A56D
c.167C>A
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