Varaico: Literature-Extracted Genetic Variants

C4B

301 papers

RefSeq Summary

This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is prot...

Pfam Domains

C4_MG1aa 23–134UCSCComplement C4, MG1 domain

MG2aa 140–233UCSCMG2 domain

MG3aa 235–323UCSCMacroglobulin domain MG3

MG4aa 369–462UCSCMacroglobulin domain MG4

A2M_BRDaa 473–611UCSCAlpha-2-macroglobulin bait region domain

ANATOaa 702–736UCSCAnaphylotoxin-like domain

Gene Aliases

HGNC Name

complement C4B

HGNC Alias Symbols

CPAMD3; C4F; CO4; C4B1; C4B3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001002029.4

p.N64T

c.191A>C

Surrounding Variants

1 paper

NM_001002029.4

p.P67S

c.199C>T

1 paper

NM_001002029.4

p.S55L

c.164C>T

1 paper

NM_001002029.4

p.G54R

c.160G>A

1 paper

NM_001002029.4

p.P47R

c.140C>G

1 paper

NM_001002029.4

p.A83G

c.248C>G

1 paper

NM_001002029.4

p.D45Y

c.133G>T

1 paper

NM_001002029.4

p.L84H

c.251T>A

3 papers

NM_001002029.4

p.Q88_V89Splc

c.264+1G>A

2 papers

NM_001002029.4

p.L37P

c.110T>C

1 paper

NM_001002029.4

p.V30A

c.89T>C

1 paper

NM_001002029.4

p.V30M

c.88G>A

1 paper

NM_001002029.4

p.L23L

c.69G>A