Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.I82I

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.I82I
c.246T>C
Surrounding Variants
1 paper
NM_003781.4
p.L83L
c.249G>A
1 paper
NM_003781.4
p.V81V
c.243C>T
1 paper
NM_003781.4
p.T85S
c.253A>T
1 paper
NM_003781.4
p.F79I
c.235T>A
1 paper
NM_003781.4
p.P88P
c.264T>C
1 paper
NM_003781.4
p.H75D
c.223C>G
3 papers
NM_003781.4
p.S71T
c.211T>A
1 paper
NM_003781.4
p.H70Q
c.210T>G
1 paper
NM_003781.4
p.H70Q
c.210T>A
1 paper
NM_003781.4
p.R94R
c.282G>A
1 paper
NM_003781.4
p.R68fs
c.202_203fs
6 papers
NM_003781.4
p.R68*
c.202C>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."