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

2 papers

NM_007293.3

p.A1062V

c.3185C>T

Surrounding Variants

1 paper

NM_007293.3

p.Y1053Y

c.3159C>T

2 papers

NM_007293.3

p.D1073G

c.3218A>G

1 paper

NM_007293.3

p.A1045T

c.3133G>A

1 paper

NM_007293.3

p.Q1033*

c.3097C>T

1 paper

NM_007293.3

p.E1098D

c.3294G>C

1 paper

NM_007293.3

p.E1098D

c.3294G>T

1 paper

NM_007293.3

p.L1022P

c.3065T>C

1 paper

NM_007293.3

p.P1020L

c.3059C>T

1 paper

NM_007293.3

p.Q1111P

c.3332A>C

9 papers

NM_007293.3

p.P1120T

c.3358C>A

1 paper

NM_007293.3

p.P1120L

c.3359C>T

1 paper

NM_007293.3

p.C1121S

c.3362G>C