Varaico: Literature-Extracted Genetic Variants

C3

3,673 papers

RefSeq Summary

Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded prepropro...

Pfam Domains

MG1aa 23–124UCSCMacroglobulin domain MG1

MG2aa 129–224UCSCMG2 domain

MG3aa 226–309UCSCMacroglobulin domain MG3

MG4aa 355–446UCSCMacroglobulin domain MG4

A2M_BRDaa 456–605UCSCAlpha-2-macroglobulin bait region domain

ANATOaa 693–728UCSCAnaphylotoxin-like domain

Gene Aliases

HGNC Name

complement C3

HGNC Alias Symbols

CPAMD1; ARMD9; C3a; C3b

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000064.4

p.P314P

c.942C>A

Surrounding Variants

42 papers

NM_000064.4

p.P314L

c.941C>T

1 paper

NM_000064.4

p.R315*

c.943C>T

1 paper

NM_000064.4

p.P314R

c.941C>G

4 papers

NM_000064.4

p.R315Q

c.944G>A

1 paper

NM_000064.4

p.R315delFs

c.943delG

2 papers

NM_000064.4

p.P314A

c.940C>G

1 paper

NM_000064.4

p.R315fs

c.943_944fs

1 paper

NM_000064.4

p.V300_R315delFs

c.899_944del46

1 paper

NM_000064.4

p.A316S

c.946G>T

1 paper

NM_000064.4

p.A316V

c.947C>T

1 paper

NM_000064.4

p.A316E

c.947C>A

1 paper

NM_000064.4

p.R315_A316delFs

c.945_946delCT