Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.K178N

B3GALNT1

57 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 92–285UCSCGalactosyltransferase

Gene Aliases

HGNC Name

beta-1,3-N-acetylgalactosaminyltransferase 1

HGNC Previous Symbol

B3GALT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003781.4
p.K178N
c.534G>T
Surrounding Variants
1 paper
NM_003781.4
p.K178N
c.534G>C
3 papers
NM_003781.4
p.D180insFs
c.538_539insA
1 paper
NM_003781.4
p.D180fs
c.538_539fs
1 paper
NM_003781.4
p.V176V
c.528A>C
1 paper
NM_003781.4
p.Y175_V176insFs
c.525_526ins7
1 paper
NM_003781.4
p.V176I
c.526G>A
2 papers
NM_003781.4
p.V183D
c.548T>A
1 paper
NM_003781.4
p.F184insFs
c.550_551insC
1 paper
NM_003781.4
p.F184S
c.551T>C
1 paper
NM_003781.4
p.N186D
c.556A>G
1 paper
NM_003781.4
p.T187I
c.560C>T
1 paper
NM_003781.4
p.G188C
c.562G>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."