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

1 paper

NM_000066.4

p.D412Splc

c.1234+40T>C

Surrounding Variants

1 paper

NM_000066.4

p.E391D

c.1173G>T

1 paper

NM_000066.4

p.E391D

c.1173G>C

2 papers

NM_000066.4

p.G386V

c.1157G>T

10 papers

NM_000066.4

p.D382Y

c.1144G>T

1 paper

NM_000066.4

p.A379P

c.1135G>C

3 papers

NM_000066.4

p.H376Y

c.1126C>T

1 paper

NM_000066.4

p.D369Splc

c.1106-2A>G

1 paper

NM_000066.4

p.G368delFs

c.1103_1104delTC

1 paper

NM_000066.4

p.G368E

c.1103G>A

1 paper

NM_000066.4

p.G352insFs

c.1054dupG

1 paper

NM_000066.4

p.V349_G351insFs

c.1047_1053dup7

1 paper

NM_000066.4

p.G351A

c.1052G>C