Varaico: Literature-Extracted Genetic Variants

CFP

483 papers

RefSeq Summary

This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and ...

Pfam Domains

TSRaa 28–77UCSCThrombospondin type 1 repeat

TSP_1aa 81–133UCSCThrombospondin type 1 domain

TSP_1aa 140–190UCSCThrombospondin type 1 domain

TSP_1aa 197–254UCSCThrombospondin type 1 domain

TSP_1aa 261–312UCSCThrombospondin type 1 domain

TSP_1aa 319–376UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

complement factor properdin

HGNC Previous Symbol

PFC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001145252.3

p.V30E

c.89T>A

Surrounding Variants

2 papers

NM_001145252.3

p.V30L

c.88G>C

1 paper

NM_001145252.3

p.V30M

c.88G>A

1 paper

NM_001145252.3

p.L31R

c.92T>G

1 paper

NM_001145252.3

p.L31L

c.93C>T

3 papers

NM_001145252.3

p.C32Y

c.95G>A

1 paper

NM_001145252.3

p.S27*

c.80C>G

1 paper

NM_001145252.3

p.S27*

c.80C>A

1 paper

NM_001145252.3

p.S27A

c.79T>G

1 paper

NM_001145252.3

p.G26G

c.78C>T

1 paper

NM_001145252.3

p.G26Splc

c.77-1G>C

1 paper

NM_001145252.3

p.T34T

c.102C>A

1 paper

NM_001145252.3

p.Y36H

c.106T>C