Varaico: Literature-Extracted Genetic Variants

Gene:APCS
Variant:p.V151V

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.V151V
c.453C>T
Surrounding Variants
2 papers
NM_001639.4
p.E155K
c.463G>A
1 paper
NM_001639.4
p.Q147fs
c.439_440fs
1 paper
NM_001639.4
p.D157H
c.469G>C
1 paper
NM_001639.4
p.A146T
c.436G>A
1 paper
NM_001639.4
p.A146fs
c.436_437fs
1 paper
NM_001639.4
p.E145fs
c.433_434fs
1 paper
NM_001639.4
p.G160fs
c.478_479fs
1 paper
NM_001639.4
p.Y142*
c.426C>A
1 paper
NM_001639.4
p.Y142F
c.425A>T
1 paper
NM_001639.4
p.G161D
c.482G>A
1 paper
NM_001639.4
p.K162fs
c.484_485fs
4 papers
NM_001639.4
p.G141S
c.421G>A
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