Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.I76fs

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.I76fs
c.226_227fs
Surrounding Variants
4 papers
NM_080605.4
p.I76delFs
c.227delT
3 papers
NM_080605.4
p.I76fs
c.226_227fs
1 paper
NM_080605.4
p.R77H
c.230G>A
2 papers
NM_080605.4
p.S74N
c.221G>A
1 paper
NM_080605.4
p.R73L
c.218G>T
8 papers
NM_080605.4
p.T79A
c.235A>G
2 papers
NM_080605.4
p.T79K
c.236C>A
1 paper
NM_080605.4
p.E71fs
c.211_212fs
1 paper
NM_080605.4
p.A70_R73delFs
c.210_219del10
1 paper
NM_080605.4
p.G85_A95del11
c.253_284del33
13 papers
NM_080605.4
p.P67L
c.200C>T
1 paper
NM_080605.4
p.G85R
c.253G>A
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