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

2 papers

NM_000066.4

p.A446A

c.1338G>A

Surrounding Variants

1 paper

NM_000066.4

p.A446V

c.1337C>T

1 paper

NM_000066.4

p.P444L

c.1331C>T

4 papers

NM_000066.4

p.W452S

c.1355G>C

1 paper

NM_000066.4

p.W452*

c.1355G>A

1 paper

NM_000066.4

p.W452C

c.1356G>T

1 paper

NM_000066.4

p.W452C

c.1356G>C

1 paper

NM_000066.4

p.W452*

c.1356G>A

31 papers

NM_000066.4

p.R428*

c.1282C>T

1 paper

NM_000066.4

p.K466_V467Splc

c.1398+6C>T

1 paper

NM_000066.4

p.L423W

c.1268T>G

1 paper

NM_000066.4

p.K415_R416del2

c.1243_1247del6

1 paper

NM_000066.4

p.D412Splc

c.1234+40T>C