Varaico: Literature-Extracted Genetic Variants

Gene:APCS
Variant:p.A146T

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.A146T
c.436G>A
Surrounding Variants
1 paper
NM_001639.4
p.A146fs
c.436_437fs
1 paper
NM_001639.4
p.Q147fs
c.439_440fs
1 paper
NM_001639.4
p.E145fs
c.433_434fs
1 paper
NM_001639.4
p.Y142*
c.426C>A
1 paper
NM_001639.4
p.Y142F
c.425A>T
4 papers
NM_001639.4
p.G141S
c.421G>A
1 paper
NM_001639.4
p.G141C
c.421G>T
1 paper
NM_001639.4
p.V151V
c.453C>T
1 paper
NM_001639.4
p.Q140fs
c.418_419fs
1 paper
NM_001639.4
p.R139L
c.416G>T
1 paper
NM_001639.4
p.R139fs
c.415_416fs
1 paper
NM_001639.4
p.R139*
c.415C>T
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