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

4 papers

NM_007293.3

p.L7M

c.19C>A

Surrounding Variants

1 paper

NM_007293.3

p.L7P

c.20T>C

1 paper

NM_007293.3

p.G6A

c.17G>C

1 paper

NM_007293.3

p.L7_A10delFs

c.19_28del10

5 papers

NM_007293.3

p.L4L

c.12C>A

4 papers

NM_007293.3

p.L4I

c.10C>A

1 paper

NM_007293.3

p.A10E

c.29C>A

1 paper

NM_007293.3

p.L3P

c.8T>C

9 papers

NM_007293.3

p.L3M

c.7C>A

3 papers

NM_007293.3

p.R2S

c.6G>C

2 papers

NM_007293.3

p.R2S

c.6G>T

1 paper

NM_007293.3

p.S11S

c.33C>A

1 paper

NM_007293.3

p.R2M

c.5G>T