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.A784fs

c.2350_2351fs

Surrounding Variants

1 paper

NM_000587.4

p.C791_R792insFs

c.2373_2374insG

1 paper

NM_000587.4

p.S795L

c.2384C>T

1 paper

NM_000587.4

p.S795S

c.2385G>A

2 papers

NM_000587.4

p.E796Fs

c.2387delinsGCAGGCCAFs

1 paper

NM_000587.4

p.E799*

c.2395G>T

1 paper

NM_000587.4

p.M815K

c.2444T>A

1 paper

NM_000587.4

p.C818F

c.2453G>T

1 paper

NM_000587.4

p.A822V

c.2465C>T

1 paper

NM_000587.4

p.R824S

c.2472A>T

1 paper

NM_000587.4

p.R826T

c.2477G>C

6 papers

NM_000587.4

p.A784Splc

c.2350+2T>C

5 papers

NM_000587.4

p.A784delFs

c.2350delG