Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.I306fs

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.I306fs
c.916_917fs
Surrounding Variants
1 paper
NM_003781.4
p.A308S
c.922G>T
1 paper
NM_003781.4
p.R304C
c.910C>T
1 paper
NM_003781.4
p.H309H
c.927T>C
1 paper
NM_003781.4
p.R303G
c.907A>G
1 paper
NM_003781.4
p.L302_R303delins
c.906_907delinsTG
1 paper
NM_003781.4
p.L302L
c.904C>T
1 paper
NM_003781.4
p.L297delins
c.890_891delinsCA
1 paper
NM_003781.4
p.L297S
c.890T>C
1 paper
NM_003781.4
p.I316M
c.948C>G
4 papers
NM_003781.4
p.W320*
c.959G>A
3 papers
NM_003781.4
p.W320*
c.960G>A
2 papers
NM_003781.4
p.L292_Y293insA
c.874_878ins3
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