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.T223I

c.668C>T

Surrounding Variants

2 papers

NM_000066.4

p.R242C

c.724C>T

1 paper

NM_000066.4

p.E246D

c.738G>T

1 paper

NM_000066.4

p.E246D

c.738G>C

1 paper

NM_000066.4

p.S250N

c.749G>A

1 paper

NM_000066.4

p.F254L

c.760T>C

1 paper

NM_000066.4

p.F254L

c.762C>G

1 paper

NM_000066.4

p.F254L

c.762C>A

1 paper

NM_000066.4

p.S255R

c.763A>C

1 paper

NM_000066.4

p.S255R

c.765T>G

1 paper

NM_000066.4

p.S255R

c.765T>A

2 papers

NM_000066.4

p.K259*

c.775A>T

1 paper

NM_001278543.2

p.I208del1

c.622_624delTAT