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.L667L

c.1999C>T

Surrounding Variants

1 paper

NM_007293.3

p.Q704*

c.2110C>T

2 papers

NM_007293.3

p.P711_Q718del8

c.2131_2153del24

1 paper

NM_007293.3

p.P726L

c.2177C>T

1 paper

NM_007293.3

p.C728delFs

c.2184delC

1 paper

NM_007293.3

p.P731R

c.2192C>G

1 paper

NM_007293.3

p.S615A

c.1843T>G

1 paper

NM_007293.3

p.H590P

c.1769A>C

1 paper

NM_007293.3

p.L589_H590insFs

c.1767_1768insT

2 papers

NM_007293.3

p.V587insFs

c.1760_1761insT

1 paper

NM_007293.3

p.R791H

c.2372G>A

1 paper

NM_007293.3

p.E568*

c.1702G>T

1 paper

NM_007293.3

p.S814F

c.2441C>T