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

10 papers

NM_007293.3

p.V282L

c.844G>T

Surrounding Variants

7 papers

NM_007293.3

p.V282L

c.844G>C

1 paper

NM_007293.3

p.G278E

c.833G>A

1 paper

NM_007293.3

p.D290V

c.869A>T

5 papers

NM_007293.3

p.G291S

c.871G>A

1 paper

NM_007293.3

p.G291C

c.871G>T

1 paper

NM_007293.3

p.Y272*

c.816T>A

1 paper

NM_007293.3

p.F296L

c.888T>A

1 paper

NM_007293.3

p.R297Q

c.890G>A

1 paper

NM_007293.3

p.G298G

c.894G>T

1 paper

NM_007293.3

p.L299L

c.895C>T

1 paper

NM_007293.3

p.S301N

c.902G>A

1 paper

NM_007293.3

p.Q302L

c.905A>T