Varaico: Literature-Extracted Genetic Variants

C7

463 papers

RefSeq Summary

This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune syst...

Pfam Domains

TSP_1aa 33–79UCSCThrombospondin type 1 domain

Ldl_recept_aaa 83–119UCSCLow-density lipoprotein receptor domain class A

MACPFaa 227–448UCSCMAC/Perforin domain

TSP_1aa 501–549UCSCThrombospondin type 1 domain

Sushiaa 571–626UCSCSushi repeat (SCR repeat)

Sushiaa 631–688UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

complement C7

HGNC Previous Name

complement component 7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000587.4

p.E585A

c.1754A>C

Surrounding Variants

7 papers

NM_000587.4

p.T587P

c.1759A>C

1 paper

NM_000587.4

p.M588L

c.1762A>T

2 papers

NM_000587.4

p.M588I

c.1764G>A

8 papers

NM_000587.4

p.T598S

c.1792A>T

2 papers

NM_000587.4

p.T598S

c.1793C>G

1 paper

NM_000587.4

p.R612K

c.1835G>A

1 paper

NM_000587.4

p.L617insFs

c.1851dupA

1 paper

NM_000587.4

p.R618W

c.1852C>T

2 papers

NM_000587.4

p.F581fs

c.1741_1742fs

2 papers

NM_000587.4

p.F581delFs

c.1743delT

1 paper

NM_000587.4

p.D579E

c.1737T>A

1 paper

NM_000587.4

p.K578insFs

c.1733_1734insC