Varaico: Literature-Extracted Genetic Variants

Gene:APCS
Variant:p.T73I

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.T73I
c.218C>T
Surrounding Variants
1 paper
NM_001639.4
p.T73S
c.217A>T
1 paper
NM_001639.4
p.Q74_E79delFs
c.221_236del16
1 paper
NM_001639.4
p.N72Y
c.214A>T
1 paper
NM_001639.4
p.D77N
c.229G>A
1 paper
NM_001639.4
p.N78T
c.233A>C
1 paper
NM_001639.4
p.L68P
c.203T>C
1 paper
NM_001639.4
p.E79insFs
c.237dupG
1 paper
NM_001639.4
p.A65_Y66insFs
c.195_196insT
1 paper
NM_001639.4
p.Y83F
c.248A>T
1 paper
NM_001639.4
p.S63F
c.188C>T
1 paper
NM_001639.4
p.Y83*
c.249T>A
1 paper
NM_001639.4
p.Y83*
c.249T>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."