Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.K105delFs

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.K105delFs
c.314delT
Surrounding Variants
1 paper
NM_003781.4
p.K105fs
c.313_314fs
1 paper
NM_003781.4
p.K105fs
c.313_314fs
1 paper
NM_003781.4
p.W107insFs
c.320_321insA
1 paper
NM_003781.4
p.W108_G109insTC
c.322_326ins6
3 papers
NM_003781.4
p.V112I
c.334G>A
2 papers
NM_003781.4
p.R98insFs
c.292_293insA
1 paper
NM_003781.4
p.T114insFs
c.340dupA
1 paper
NM_003781.4
p.R94R
c.282G>A
1 paper
NM_003781.4
p.G119A
c.356G>C
1 paper
NM_003781.4
p.P88P
c.264T>C
1 paper
NM_003781.4
p.K124R
c.371A>G
5 papers
NM_003781.4
p.D126N
c.376G>A
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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."