Varaico: Literature-Extracted Genetic Variants

Gene:PTX3
Variant:p.V246M

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.V246M
c.736G>A
Surrounding Variants
1 paper
NM_002852.4
p.E235K
c.703G>A
1 paper
NM_002852.4
p.V257I
c.769G>A
1 paper
NM_002852.4
p.A258S
c.772G>T
1 paper
NM_002852.4
p.V262V
c.786T>C
1 paper
NM_002852.4
p.L264P
c.791T>C
1 paper
NM_002852.4
p.H269Y
c.805C>T
1 paper
NM_002852.4
p.E278K
c.832G>A
1 paper
NM_002852.4
p.C210F
c.629G>T
1 paper
NM_002852.4
p.G287R
c.859G>C
1 paper
NM_002852.4
p.E288A
c.863A>C
1 paper
NM_002852.4
p.A290V
c.869C>T
1 paper
NM_002852.4
p.R200G
c.598A>G
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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."