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.C523S

c.1568G>C

Surrounding Variants

1 paper

NM_000587.4

p.C523S

c.1567T>A

1 paper

NM_000587.4

p.R521H

c.1562G>A

21 papers

NM_000587.4

p.R521S

c.1561C>A

1 paper

NM_000587.4

p.R521C

c.1561C>T

1 paper

NM_000587.4

p.G515A

c.1544G>C

1 paper

NM_000587.4

p.S534P

c.1600T>C

1 paper

NM_000587.4

p.S534F

c.1601C>T

1 paper

NM_000587.4

p.C535C

c.1605C>T

2 papers

NM_000587.4

p.V536I

c.1606G>A

1 paper

NM_000587.4

p.C505Y

c.1514G>A

1 paper

NM_000587.4

p.E548Q

c.1642G>C

1 paper

NM_000587.4

p.E549V

c.1646A>T