Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.L245delFs

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.L245delFs
c.733_734delCT
Surrounding Variants
1 paper
NM_080605.4
p.D242E
c.726C>A
1 paper
NM_080605.4
p.D242E
c.726C>G
1 paper
NM_080605.4
p.L245fs
c.733_734fs
1 paper
NM_080605.4
p.W248L
c.743G>T
1 paper
NM_080605.4
p.W238C
c.714G>C
1 paper
NM_080605.4
p.W238C
c.714G>T
1 paper
NM_080605.4
p.W238delFs
c.714delG
1 paper
NM_080605.4
p.A250E
c.749C>A
1 paper
NM_080605.4
p.P251T
c.751C>A
1 paper
NM_080605.4
p.P251P
c.753G>A
1 paper
NM_080605.4
p.V252L
c.754G>C
1 paper
NM_080605.4
p.V252L
c.754G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."