Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT1
Variant:p.S218R

B3GALT1

32 papers

RefSeq Summary

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor sub...

Pfam Domains

Galactosyl_Taa 92–283UCSCGalactosyltransferase

Gene Aliases

HGNC Name

beta-1,3-galactosyltransferase 1

HGNC Alias Symbol

beta3Gal-T1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020981.4
p.S218R
c.654T>A
Surrounding Variants
1 paper
NM_020981.4
p.S218R
c.654T>G
1 paper
NM_020981.4
p.S218R
c.652A>C
2 papers
NM_020981.4
p.R217C
c.649C>T
1 paper
NM_020981.4
p.L187F
c.559C>T
1 paper
NM_020981.4
p.N186S
c.557A>G
1 paper
NM_020981.4
p.D185N
c.553G>A
1 paper
NM_020981.4
p.K253N
c.759G>C
1 paper
NM_020981.4
p.K253N
c.759G>T
1 paper
NM_020981.4
p.S178R
c.534C>A
1 paper
NM_020981.4
p.S178R
c.534C>G
1 paper
NM_020981.4
p.S178R
c.532A>C
1 paper
NM_020981.4
p.K175N
c.525A>C
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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."