Varaico: Literature-Extracted Genetic Variants

Gene:APCS
Variant:p.P132T

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.P132T
c.394C>A
Surrounding Variants
1 paper
NM_001639.4
p.P132A
c.394C>G
1 paper
NM_001639.4
p.P132S
c.394C>T
1 paper
NM_001639.4
p.L133L
c.399G>A
1 paper
NM_001639.4
p.V134_K135insFs
c.402_403insC
1 paper
NM_001639.4
p.I128T
c.383T>C
1 paper
NM_001639.4
p.K136R
c.407A>G
1 paper
NM_001639.4
p.K136M
c.407A>T
1 paper
NM_001639.4
p.I128delFs
c.382delA
1 paper
NM_001639.4
p.R139fs
c.415_416fs
1 paper
NM_001639.4
p.R139*
c.415C>T
1 paper
NM_001639.4
p.R139L
c.416G>T
1 paper
NM_001639.4
p.Q140fs
c.418_419fs
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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."