Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.R191_V192delFs

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.R191_V192delFs
c.573_576del4
Surrounding Variants
1 paper
NM_080605.4
p.R189L
c.566G>T
1 paper
NM_080605.4
p.R189S
c.565C>A
4 papers
NM_080605.4
p.G196insFs
c.588dupG
3 papers
NM_080605.4
p.G196delFs
c.588delG
1 paper
NM_080605.4
p.G195_G196delFs
c.585_588del4
1 paper
NM_080605.4
p.G188R
c.562G>C
2 papers
NM_080605.4
p.P194_G195insFs
c.582_583insT
1 paper
NM_080605.4
p.G195R
c.583G>A
2 papers
NM_080605.4
p.G195R
c.583G>C
1 paper
NM_080605.4
p.G195fs
c.583_584fs
1 paper
NM_080605.4
p.S187*
c.560C>A
7 papers
NM_080605.4
p.F186L
c.558C>A
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