Varaico: Literature-Extracted Genetic Variants

Gene:APCS
Variant:p.F52L

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.F52L
c.156T>G
Surrounding Variants
1 paper
NM_001639.4
p.F52L
c.156T>A
1 paper
NM_001639.4
p.T53A
c.157A>G
4 papers
NM_001639.4
p.T53I
c.158C>T
1 paper
NM_001639.4
p.F56_L62del0
c.168_185del18
1 paper
NM_001639.4
p.F56C
c.167T>G
1 paper
NM_001639.4
p.R57*
c.169C>T
1 paper
NM_001639.4
p.L45L
c.135G>A
1 paper
NM_001639.4
p.S60insFs
c.180dupT
2 papers
NM_001639.4
p.L45delFs
c.133delC
1 paper
NM_001639.4
p.D61N
c.181G>A
1 paper
NM_001639.4
p.D61G
c.182A>G
1 paper
NM_001639.4
p.L62delFs
c.184delC
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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."