Varaico: Literature-Extracted Genetic Variants

Gene:PTX3
Variant:p.P44Splc

PTX3

101 papers

RefSeq Summary

This gene encodes a member of the pentraxin protein family. The expression of this protein is induced by inflammatory cytokines in response to inflammatory stimuli in several mesenchymal and epithelia...

Pfam Domains

PTX3_Naa 71–170UCSCPTX3-like, N-terminal domain
Pentaxinaa 181–379UCSCPentaxin family

Gene Aliases

HGNC Name

pentraxin 3

HGNC Previous Symbol

TNFAIP5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002852.4
p.P44Splc
c.131-1G>C
Surrounding Variants
1 paper
NM_002852.4
p.C47S
c.139T>A
1 paper
NM_002852.4
p.C47S
c.140G>C
7 papers
NM_002852.4
p.A48D
c.143C>A
1 paper
NM_002852.4
p.C49S
c.145T>A
1 paper
NM_002852.4
p.C49S
c.146G>C
1 paper
NM_002852.4
p.E55E
c.165A>G
1 paper
NM_002852.4
p.I61fs
c.181_182fs
1 paper
NM_002852.4
p.I61M
c.183C>G
1 paper
NM_002852.4
p.M68V
c.202A>G
1 paper
NM_002852.4
p.Q75Q
c.225A>G
1 paper
NM_002852.4
p.V80A
c.239T>C
1 paper
NM_002852.4
p.G83A
c.248G>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."