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.T112delFs

c.336delG

Surrounding Variants

1 paper

NM_000066.4

p.N113fs

c.337_338fs

1 paper

NM_000066.4

p.C110F

c.329G>T

9 papers

NM_000066.4

p.G117R

c.349G>C

9 papers

NM_000066.4

p.G117R

c.349G>A

4 papers

NM_000066.4

p.E108K

c.322G>A

2 papers

NM_000066.4

p.S118C

c.352A>T

1 paper

NM_000066.4

p.E106D

c.318A>T

1 paper

NM_000066.4

p.E106D

c.318A>C

6 papers

NM_000066.4

p.R121*

c.361C>T

1 paper

NM_001278543.2

p.C70delFs

c.208delA

1 paper

NM_000066.4

p.F102L

c.306C>G

1 paper

NM_000066.4

p.C100*

c.300C>A