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.D115A

c.344A>C

Surrounding Variants

1 paper

NM_000587.4

p.D117G

c.350A>G

1 paper

NM_000587.4

p.E120*

c.358G>T

1 paper

NM_000587.4

p.S122S

c.366A>G

1 paper

NM_000587.4

p.R124T

c.371G>C

2 papers

NM_000587.4

p.G105R

c.313G>A

2 papers

NM_000587.4

p.G105R

c.313G>C

1 paper

NM_000587.4

p.P126L

c.377C>T

1 paper

NM_000587.4

p.N104D

c.310A>G

1 paper

NM_000587.4

p.S127P

c.379T>C

1 paper

NM_000587.4

p.C103Y

c.308G>A

1 paper

NM_000587.4

p.C103delFs

c.309delC

7 papers

NM_000587.4

p.C128R

c.382T>C