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

4 papers

NM_000066.4

p.T542I

c.1625C>T

Surrounding Variants

1 paper

NM_000066.4

p.N541S

c.1622A>G

1 paper

NM_000066.4

p.D545N

c.1633G>A

1 paper

NM_000066.4

p.D545V

c.1634A>T

1 paper

NM_000066.4

p.N541Splc

c.1622-20A>C

1 paper

NM_000066.4

p.W551S

c.1652G>C

1 paper

NM_000066.4

p.W551*

c.1652G>A

1 paper

NM_000066.4

p.W551C

c.1653G>T

1 paper

NM_000066.4

p.W551C

c.1653G>C

1 paper

NM_000066.4

p.W551*

c.1653G>A

1 paper

NM_000066.4

p.N553S

c.1658A>G

1 paper

NM_000066.4

p.G559V

c.1676G>T

1 paper

NM_000066.4

p.R561C

c.1681C>T