Varaico: Literature-Extracted Genetic Variants

Gene:PTX3
Variant:p.H39Q

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
2 papers
NM_002852.4
p.H39Q
c.117T>G
Surrounding Variants
2 papers
NM_002852.4
p.H39Q
c.117T>A
1 paper
NM_002852.4
p.P40S
c.118C>T
1 paper
NM_002852.4
p.T41I
c.122C>T
1 paper
NM_002852.4
p.P44H
c.131C>A
1 paper
NM_002852.4
p.P44Splc
c.130+9A>G
1 paper
NM_002852.4
p.D21H
c.61G>C
1 paper
NM_002852.4
p.E18V
c.53A>T
1 paper
NM_002852.4
p.L16L
c.46T>C
1 paper
NM_002852.4
p.C9Y
c.26G>A
1 paper
NM_002852.4
p.P44Splc
c.131-1G>C
1 paper
NM_002852.4
p.C47S
c.139T>A
1 paper
NM_002852.4
p.C47S
c.140G>C
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