Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT1
Variant:p.N106K

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.N106K
c.318C>A
Surrounding Variants
1 paper
NM_020981.4
p.W101*
c.303G>A
1 paper
NM_020981.4
p.W101*
c.302G>A
1 paper
NM_020981.4
p.T100P
c.298A>C
1 paper
NM_020981.4
p.R94C
c.280C>T
1 paper
NM_020981.4
p.T86A
c.256A>G
1 paper
NM_020981.4
p.I82V
c.244A>G
1 paper
NM_020981.4
p.S134N
c.401G>A
4 papers
NM_020981.4
p.E64D
c.192A>C
4 papers
NM_020981.4
p.E64D
c.192A>T
1 paper
NM_020981.4
p.H150N
c.448C>A
1 paper
NM_020981.4
p.F50S
c.149T>C
1 paper
NM_020981.4
p.V163A
c.488T>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."