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

2 papers

NM_000587.4

p.C571R

c.1711T>C

Surrounding Variants

1 paper

NM_000587.4

p.P567S

c.1699C>T

1 paper

NM_000587.4

p.A576T

c.1726G>A

1 paper

NM_000587.4

p.S564F

c.1691C>T

1 paper

NM_000587.4

p.K578insFs

c.1733_1734insC

1 paper

NM_000587.4

p.D579E

c.1737T>A

1 paper

NM_000587.4

p.F561L

c.1683T>A

1 paper

NM_000587.4

p.F561L

c.1683T>G

2 papers

NM_000587.4

p.F581delFs

c.1743delT

1 paper

NM_000587.4

p.F561L

c.1681T>C

2 papers

NM_000587.4

p.F581fs

c.1741_1742fs

1 paper

NM_000587.4

p.C560S

c.1679G>C

1 paper

NM_000587.4

p.C560S

c.1678T>A