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

1–12 of 147 variants

31 papers

NM_000066.4

p.R428*

c.1282C>T

10 papers

NM_000066.4

p.D382Y

c.1144G>T

9 papers

NM_000066.4

p.G117R

c.349G>C

9 papers

NM_000066.4

p.G117R

c.349G>A

6 papers

NM_000066.4

p.Q91*

c.271C>T

6 papers

NM_000066.4

p.R121*

c.361C>T

4 papers

NM_000066.4

p.E108K

c.322G>A

4 papers

NM_000066.4

p.T112delFs

c.336delG

4 papers

NM_000066.4

p.W452S

c.1355G>C

4 papers

NM_000066.4

p.F479L

c.1437T>A

4 papers

NM_000066.4

p.T542I

c.1625C>T

3 papers

NM_000066.4

p.P261L

c.782C>T