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.T1244P

c.3730A>C

Surrounding Variants

1 paper

NM_007293.3

p.S1242S

c.3726G>A

1 paper

NM_007293.3

p.S1242L

c.3725C>T

1 paper

NM_007293.3

p.V1233fs

c.3697_3698fs

1 paper

NM_007293.3

p.S1232insFs

c.3694_3695dupTC

1 paper

NM_007293.3

p.A1268delFs

c.3802delG

1 paper

NM_007293.3

p.S1286A

c.3856T>G

1 paper

NM_007293.3

p.G1293G

c.3879C>A

1 paper

NM_007293.3

p.D1226Splc

c.3676+1G>A

1 paper

NM_007293.3

p.V1212fs

c.3634_3635fs

1 paper

NM_007293.3

p.L1210H

c.3629T>A

2 papers

NM_007293.3

p.L1210R

c.3629T>G

1 paper

NM_007293.3

p.L1209_L1210insT

c.3625_3629ins3