Varaico: Literature-Extracted Genetic Variants

Gene:ST3GAL5
Variant:p.R288*

ST3GAL5

101 papers

RefSeq Summary

Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cel...

Pfam Domains

Glyco_transf_29aa 144–406UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

HGNC Previous Symbol

SIAT9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
34 papers
NM_003896.4
p.R288*
c.862C>T
Surrounding Variants
2 papers
NM_003896.4
p.R288L
c.863G>T
1 paper
NM_003896.4
p.R288P
c.863G>C
1 paper
NM_003896.4
p.F291L
c.871T>C
1 paper
NM_003896.4
p.R307G
c.919A>G
1 paper
NM_003896.4
p.I314L
c.940A>C
1 paper
NM_003896.4
p.E326K
c.976G>A
4 papers
NM_003896.4
p.R334*
c.1000C>T
5 papers
NM_003896.4
p.R334fs
c.1000_1001fs
4 papers
NM_003896.4
p.R334delFs
c.1000delG
1 paper
NM_003896.4
p.K279T
c.836A>C
1 paper
NM_003896.4
p.W273*
c.819G>A
1 paper
NM_003896.4
p.W273*
c.818G>A
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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."