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.H746Y

c.2236C>T

Surrounding Variants

1 paper

NM_000587.4

p.M745L

c.2233A>C

1 paper

NM_000587.4

p.M745L

c.2233A>T

1 paper

NM_000587.4

p.V742D

c.2225T>A

1 paper

NM_000587.4

p.C750*

c.2250T>A

1 paper

NM_000587.4

p.T756I

c.2267C>T

6 papers

NM_000587.4

p.C728*

c.2184T>A

1 paper

NM_000587.4

p.A767delFs

c.2299delG

1 paper

NM_000587.4

p.S768L

c.2303C>T

1 paper

NM_000587.4

p.G774A

c.2321G>C

5 papers

NM_000587.4

p.A784delFs

c.2350delG

6 papers

NM_000587.4

p.A784Splc

c.2350+2T>C

1 paper

NM_000587.4

p.A784fs

c.2350_2351fs