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.H96Y

c.286C>T

Surrounding Variants

1 paper

NM_000066.4

p.H96insFs

c.288dupT

1 paper

NM_000066.4

p.G97fs

c.289_290fs

1 paper

NM_000066.4

p.C100*

c.300C>A

6 papers

NM_000066.4

p.Q91*

c.271C>T

1 paper

NM_000066.4

p.F102L

c.306C>G

1 paper

NM_000066.4

p.E106D

c.318A>T

1 paper

NM_000066.4

p.E106D

c.318A>C

4 papers

NM_000066.4

p.E108K

c.322G>A

1 paper

NM_000066.4

p.C110F

c.329G>T

4 papers

NM_000066.4

p.T112delFs

c.336delG

1 paper

NM_000066.4

p.N113fs

c.337_338fs

1 paper

NM_000066.4

p.R83_Y84Splc

c.250-20C>G