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.M328I

c.984G>T

Surrounding Variants

1 paper

NM_007293.3

p.M328I

c.984G>A

1 paper

NM_007293.3

p.M328I

c.984G>C

1 paper

NM_007293.3

p.D332_Y339del8

c.994_1016del24

1 paper

NM_007293.3

p.K325M

c.974A>T

1 paper

NM_007293.3

p.R337C

c.1009C>T

6 papers

NM_007293.3

p.S347Y

c.1040C>A

1 paper

NM_007293.3

p.P348S

c.1042C>T

1 paper

NM_007293.3

p.G308insFs

c.923_924insT

2 papers

NM_007293.3

p.N307insFs

c.920_921insT

1 paper

NM_007293.3

p.L305V

c.913C>G

1 paper

NM_007293.3

p.Q302L

c.905A>T

1 paper

NM_007293.3

p.S301N

c.902G>A