Varaico: Literature-Extracted Genetic Variants

Gene:PTX3
Variant:p.R94Q

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.R94Q
c.281G>A
Surrounding Variants
1 paper
NM_002852.4
p.L92L
c.274C>T
1 paper
NM_002852.4
p.L99P
c.296T>C
1 paper
NM_002852.4
p.A100V
c.299C>T
1 paper
NM_002852.4
p.C103S
c.307T>A
1 paper
NM_002852.4
p.C103S
c.308G>C
1 paper
NM_002852.4
p.G83A
c.248G>C
1 paper
NM_002852.4
p.V80A
c.239T>C
1 paper
NM_002852.4
p.A109T
c.325G>A
1 paper
NM_002852.4
p.R112fs
c.334_335fs
1 paper
NM_002852.4
p.Q75Q
c.225A>G
1 paper
NM_002852.4
p.T114I
c.341C>T
1 paper
NM_002852.4
p.L120L
c.358C>T
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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."