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

1–12 of 314 variants

21 papers

NM_000587.4

p.R521S

c.1561C>A

18 papers

NM_000587.4

p.G379R

c.1135G>C

9 papers

NM_000587.4

p.S389T

c.1166G>C

8 papers

NM_000587.4

p.G379R

c.1135G>A

8 papers

NM_000587.4

p.T598S

c.1792A>T

7 papers

NM_000587.4

p.C128R

c.382T>C

7 papers

NM_000587.4

p.K420Q

c.1258A>C

7 papers

NM_000587.4

p.T587P

c.1759A>C

6 papers

NM_000587.4

p.G94Splc

c.281-1G>T

6 papers

NM_000587.4

p.C728*

c.2184T>A

6 papers

NM_000587.4

p.A784Splc

c.2350+2T>C

5 papers

NM_000587.4

p.Q703*

c.2107C>T