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

1–12 of 224 variants

31 papers

NM_007293.3

p.P453S

c.1357C>T

10 papers

NM_007293.3

p.V282L

c.844G>T

9 papers

NM_007293.3

p.L3M

c.7C>A

9 papers

NM_007293.3

p.P1120T

c.3358C>A

7 papers

NM_007293.3

p.V282L

c.844G>C

6 papers

NM_007293.3

p.S347Y

c.1040C>A

6 papers

NM_007293.3

p.N1176S

c.3527A>G

5 papers

NM_007293.3

p.L4L

c.12C>A

5 papers

NM_007293.3

p.G291S

c.871G>A

5 papers

NM_007293.3

p.P482S

c.1444C>T

4 papers

NM_007293.3

p.L4I

c.10C>A

4 papers

NM_007293.3

p.L7M

c.19C>A