Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.F30L

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.F30L
c.90C>A
Surrounding Variants
1 paper
NM_003781.4
p.F30L
c.90C>G
1 paper
NM_003781.4
p.F31L
c.91T>C
1 paper
NM_003781.4
p.F30L
c.88T>C
1 paper
NM_003781.4
p.F31L
c.93T>G
1 paper
NM_003781.4
p.F31F
c.93T>C
1 paper
NM_003781.4
p.F31L
c.93T>A
1 paper
NM_003781.4
p.V32L
c.94G>T
1 paper
NM_003781.4
p.V32L
c.94G>C
1 paper
NM_003781.4
p.S29T
c.86G>C
1 paper
NM_003781.4
p.F31_V32delins
c.93_94delinsCC
1 paper
NM_003781.4
p.W34*
c.101G>A
1 paper
NM_003781.4
p.S26P
c.76T>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."