Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.S225S

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.S225S
c.675T>A
Surrounding Variants
1 paper
NM_003781.4
p.S225delins
c.674_675delinsTA
1 paper
NM_003781.4
p.E228K
c.682G>A
1 paper
NM_003781.4
p.Y229C
c.686A>G
1 paper
NM_003781.4
p.T222P
c.664A>C
1 paper
NM_003781.4
p.Y219H
c.655T>C
1 paper
NM_003781.4
p.F234F
c.702C>T
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.Y215Y
c.645T>C
1 paper
NM_003781.4
p.P236S
c.706C>T
1 paper
NM_003781.4
p.P236P
c.708A>C
1 paper
NM_003781.4
p.D211D
c.633T>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."