Varaico: Literature-Extracted Genetic Variants

C8A

354 papers

RefSeq Summary

C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack co...

Pfam Domains

Ldl_recept_aaa 94–130UCSCLow-density lipoprotein receptor domain class A

MACPFaa 267–490UCSCMAC/Perforin domain

EGF_C8A_B_C6aa 502–530UCSCComplement components C8A/B/C6, EGF-like domain

TSP_1aa 540–584UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

complement C8 alpha chain

HGNC Previous Names

complement component 8, alpha polypeptide; complement component 8 alpha subunit

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000562.3

p.T13T

c.39T>A

Surrounding Variants

1 paper

NM_000562.3

p.T13delFs

c.38delC

1 paper

NM_000562.3

p.P16P

c.48T>A

1 paper

NM_000562.3

p.A20E

c.59C>A

1 paper

NM_000562.3

p.A3A

c.9T>A

1 paper

NM_000562.3

p.A3A

c.9T>G

1 paper

NM_000562.3

p.A3_V4insFs

c.9_10ins13

252 papers

NM_000562.3

p.A3D

c.8C>A

12 papers

NM_000562.3

p.A3G

c.8C>G

1 paper

NM_000562.3

p.A3V

c.8C>T

1 paper

NM_000562.3

p.F2V

c.4T>G

1 paper

NM_000562.3

p.M1T

c.2T>C

1 paper

NM_000562.3

p.Q26Splc

c.77+3284C>G