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.F479L

c.1437T>A

Surrounding Variants

3 papers

NM_000066.4

p.F479L

c.1437T>G

3 papers

NM_000066.4

p.F479L

c.1435T>C

1 paper

NM_000066.4

p.D478N

c.1432G>A

1 paper

NM_000066.4

p.A476T

c.1426G>A

1 paper

NM_000066.4

p.V485G

c.1454T>G

1 paper

NM_000066.4

p.E468V

c.1403A>T

1 paper

NM_000066.4

p.V467M

c.1399G>A

1 paper

NM_000066.4

p.S502F

c.1505C>T

1 paper

NM_000066.4

p.G518Splc

c.1552+2T>C

1 paper

NM_000066.4

p.K466_V467Splc

c.1399-461A>G

1 paper

NM_000066.4

p.C521Y

c.1562G>A

1 paper

NM_000066.4

p.G528R

c.1582G>C