Varaico: Literature-Extracted Genetic Variants

C6

1,209 papers

RefSeq Summary

This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in t...

Pfam Domains

TSP_1aa 27–78UCSCThrombospondin type 1 domain

TSP_1aa 85–133UCSCThrombospondin type 1 domain

Ldl_recept_aaa 138–173UCSCLow-density lipoprotein receptor domain class A

MACPFaa 291–514UCSCMAC/Perforin domain

EGF_C8A_B_C6aa 526–554UCSCComplement components C8A/B/C6, EGF-like domain

TSP_1aa 566–614UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

complement C6

HGNC Previous Name

complement component 6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_000065.5

p.D627fs

c.1879_1880fs

Surrounding Variants

11 papers

NM_000065.5

p.D627delFs

c.1879delC

1 paper

NM_000065.5

p.D627E

c.1881C>A

1 paper

NM_000065.5

p.D626A

c.1877A>C

1 paper

NM_000065.5

p.M630I

c.1890G>A

1 paper

NM_000065.5

p.E632A

c.1895A>C

1 paper

NM_000065.5

p.E632E

c.1896G>A

1 paper

NM_000065.5

p.P636A

c.1906C>G

1 paper

NM_000065.5

p.E637V

c.1910A>T

1 paper

NM_000065.5

p.G643E

c.1928G>A

1 paper

NM_000065.5

p.C644F

c.1931G>T

1 paper

NM_000065.5

p.C644Y

c.1931G>A

1 paper

NM_000065.5

p.E651K

c.1951G>A