Varaico: Literature-Extracted Genetic Variants

Gene:APCS
Variant:p.S119_S120insFs

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.S119_S120insFs
c.357_358insG
Surrounding Variants
1 paper
NM_001639.4
p.E118*
c.352G>T
1 paper
NM_001639.4
p.S116R
c.348C>A
1 paper
NM_001639.4
p.S116R
c.348C>G
1 paper
NM_001639.4
p.S116R
c.346A>C
1 paper
NM_001639.4
p.H112N
c.334C>A
1 paper
NM_001639.4
p.I128delFs
c.382delA
1 paper
NM_001639.4
p.I128T
c.383T>C
1 paper
NM_001639.4
p.A109T
c.325G>A
1 paper
NM_001639.4
p.P108P
c.324G>A
2 papers
NM_001639.4
p.F107L
c.321C>G
1 paper
NM_001639.4
p.P132T
c.394C>A
1 paper
NM_001639.4
p.P132A
c.394C>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."