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.Y403F

c.1208A>T

Surrounding Variants

1 paper

NM_000587.4

p.W406R

c.1216T>C

1 paper

NM_000587.4

p.S389N

c.1166G>A

9 papers

NM_000587.4

p.S389T

c.1166G>C

7 papers

NM_000587.4

p.K420Q

c.1258A>C

1 paper

NM_000587.4

p.A382T

c.1144G>A

8 papers

NM_000587.4

p.G379R

c.1135G>A

18 papers

NM_000587.4

p.G379R

c.1135G>C

1 paper

NM_000587.4

p.G379W

c.1135G>T

1 paper

NM_000587.4

p.R378fs

c.1132_1133fs

2 papers

NM_000587.4

p.G373R

c.1117G>A

2 papers

NM_000587.4

p.G373R

c.1117G>C

1 paper

NM_000587.4

p.R372delFs

c.1115delG