Varaico: Literature-Extracted Genetic Variants

Gene:APCS
Variant:p.T12I

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.T12I
c.35C>T
Surrounding Variants
1 paper
NM_001639.4
p.S13_L14insA
c.37_41ins3
1 paper
NM_001639.4
p.L14H
c.41T>A
2 papers
NM_001639.4
p.V10A
c.29T>C
1 paper
NM_001639.4
p.L15V
c.43C>G
1 paper
NM_001639.4
p.A17S
c.49G>T
1 paper
NM_001639.4
p.A17V
c.50C>T
1 paper
NM_001639.4
p.L6Fs
c.18delinsGGTGAAAGAGGGTGFs
1 paper
NM_001639.4
p.F18Y
c.53T>A
1 paper
NM_001639.4
p.A19T
c.55G>A
1 paper
NM_001639.4
p.A19D
c.56C>A
1 paper
NM_001639.4
p.L5insFs
c.13_14insA
2 papers
NM_001639.4
p.P4P
c.12G>A
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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."