Varaico: Literature-Extracted Genetic Variants

Gene:APCS
Variant:p.P184H

APCS

224 papers

RefSeq Summary

The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence h...

Pfam Domains

Pentaxinaa 26–219UCSCPentaxin family

Gene Aliases

HGNC Name

amyloid P component, serum

HGNC Alias Symbols

PTX2; MGC88159

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001639.4
p.P184H
c.551C>A
Surrounding Variants
1 paper
NM_001639.4
p.P184A
c.550C>G
1 paper
NM_001639.4
p.N187Y
c.559A>T
1 paper
NM_001639.4
p.D180D
c.540C>T
1 paper
NM_001639.4
p.A191V
c.572C>T
1 paper
NM_001639.4
p.L176*
c.527T>A
1 paper
NM_001639.4
p.G194S
c.580G>A
2 papers
NM_001639.4
p.G194R
c.580G>C
1 paper
NM_001639.4
p.T195_P196insT
c.583_587ins3
1 paper
NM_001639.4
p.P198T
c.592C>A
1 paper
NM_001639.4
p.A199D
c.596C>A
1 paper
NM_001639.4
p.F169I
c.505T>A
1 paper
NM_001639.4
p.S168C
c.503C>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."