Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.W238C

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.W238C
c.714G>T
Surrounding Variants
1 paper
NM_080605.4
p.W238C
c.714G>C
1 paper
NM_080605.4
p.W238delFs
c.714delG
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.L245delFs
c.733_734delCT
1 paper
NM_080605.4
p.L245fs
c.733_734fs
17 papers
NM_080605.4
p.R232C
c.694C>T
1 paper
NM_080605.4
p.L230F
c.688C>T
1 paper
NM_080605.4
p.L230_A237del0
c.689_709del21
1 paper
NM_080605.4
p.R229H
c.686G>A
1 paper
NM_080605.4
p.W248L
c.743G>T
1 paper
NM_080605.4
p.L228L
c.682C>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."