Varaico: Literature-Extracted Genetic Variants

Gene:PTX4
Variant:p.R42C

PTX4

31 papers

RefSeq Summary

This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin d...

Pfam Domains

Pentaxinaa 271–459UCSCPentaxin family

Gene Aliases

HGNC Name

pentraxin 4

HGNC Previous Symbol

C16orf38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001328608.2
p.R42C
c.124C>T
Surrounding Variants
1 paper
NM_001328608.2
p.F38S
c.113T>C
1 paper
NM_001328608.2
p.R34S
c.102G>T
1 paper
NM_001328608.2
p.R34S
c.102G>C
1 paper
NM_001328608.2
p.G2fs
c.4_5fs
1 paper
NM_001328608.2
p.G2D
c.5G>A
1 paper
NM_001328608.2
p.Y66N
c.196T>A
1 paper
NM_001328608.2
p.R123L
c.368G>T
1 paper
NM_001328608.2
p.G130fs
c.388_389fs
1 paper
NM_001328608.2
p.G130delFs
c.389delC
1 paper
NM_001328608.2
p.S133N
c.398G>A
1 paper
NM_001328608.2
p.R138Q
c.413G>A
1 paper
NM_001328608.2
p.Q211E
c.631C>G
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