Varaico: Literature-Extracted Genetic Variants

C4A

351 papers

RefSeq Summary

This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer ...

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 C4A

HGNC Alias Symbols

CPAMD2; C4S; CO4; C4; C4A3; C4A2; C4A4; C4A6; RG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007293.3

p.R916G

c.2746C>G

Surrounding Variants

2 papers

NM_007293.3

p.R916Q

c.2747G>A

1 paper

NM_007293.3

p.V914G

c.2741T>G

2 papers

NM_007293.3

p.E920_F921insT

c.2758_2762ins3

2 papers

NM_007293.3

p.F921L

c.2763C>A

1 paper

NM_007293.3

p.A907T

c.2719G>A

1 paper

NM_007293.3

p.A926V

c.2777C>T

1 paper

NM_007293.3

p.T904T

c.2712G>A

1 paper

NM_007293.3

p.E934G

c.2801A>G

2 papers

NM_007293.3

p.A891V

c.2672C>T

1 paper

NM_007293.3

p.P890insFs

c.2669_2670insC

1 paper

NM_007293.3

p.P853S

c.2557C>T

1 paper

NM_007293.3

p.R852Q

c.2555G>A