Varaico: Literature-Extracted Genetic Variants

C8B

155 papers

RefSeq Summary

This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes...

Pfam Domains

TSP_1aa 68–116UCSCThrombospondin type 1 domain

Ldl_recept_aaa 120–155UCSCLow-density lipoprotein receptor domain class A

MACPFaa 274–496UCSCMAC/Perforin domain

EGF_C8A_B_C6aa 508–536UCSCComplement components C8A/B/C6, EGF-like domain

TSP_1aa 547–591UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

complement C8 beta chain

HGNC Previous Name

complement component 8, beta polypeptide

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000066.4

p.H294N

c.880C>A

Surrounding Variants

2 papers

NM_000066.4

p.F292L

c.874T>C

1 paper

NM_000066.4

p.D298N

c.892G>A

1 paper

NM_000066.4

p.K289*

c.865A>T

1 paper

NM_000066.4

p.L318H

c.953T>A

1 paper

NM_000066.4

p.Q319H

c.957G>C

1 paper

NM_000066.4

p.V321A

c.962T>C

3 papers

NM_000066.4

p.R323W

c.967C>T

1 paper

NM_000066.4

p.R338C

c.1012C>T

1 paper

NM_000066.4

p.G351A

c.1052G>C

1 paper

NM_000066.4

p.V349_G351insFs

c.1047_1053dup7

1 paper

NM_000066.4

p.G352insFs

c.1054dupG

1 paper

NM_000066.4

p.G368E

c.1103G>A