Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.L209L

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.L209L
c.627A>G
Surrounding Variants
1 paper
NM_003781.4
p.I210S
c.629T>G
1 paper
NM_003781.4
p.D211N
c.631G>A
1 paper
NM_003781.4
p.D211D
c.633T>C
1 paper
NM_003781.4
p.Y215Y
c.645T>C
2 papers
NM_003781.4
p.R216S
c.648A>T
3 papers
NM_003781.4
p.R216S
c.648A>C
1 paper
NM_003781.4
p.H199_S200delFs
c.597_600del4
2 papers
NM_003781.4
p.S200fs
c.598_599fs
1 paper
NM_003781.4
p.Y219H
c.655T>C
1 paper
NM_003781.4
p.S200delFs
c.598delA
1 paper
NM_003781.4
p.H199fs
c.595_596fs
1 paper
NM_003781.4
p.L197delins
c.589_590delinsTG
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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."