Varaico: Literature-Extracted Genetic Variants

C5

1,322 papers

RefSeq Summary

This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encod...

Pfam Domains

MG1aa 20–120UCSCMacroglobulin domain MG1

MG1aa 26–126UCSCMacroglobulin domain MG1

MG2aa 131–225UCSCMG2 domain

MG3aa 227–315UCSCMacroglobulin domain MG3

MG4aa 360–463UCSCMacroglobulin domain MG4

A2M_BRDaa 473–618UCSCAlpha-2-macroglobulin bait region domain

Gene Aliases

HGNC Name

complement C5

HGNC Alias Symbols

CPAMD4; C5a; C5b

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001735.3

p.K372R

c.1115A>G

Surrounding Variants

1 paper

NM_001735.3

p.K372_V373Splc

c.1116+2T>C

1 paper

NM_001735.3

p.P370S

c.1108C>T

1 paper

NM_001735.3

p.Y369S

c.1106A>C

1 paper

NM_001735.3

p.L363Q

c.1088T>A

1 paper

NM_001735.3

p.F362L

c.1086C>G

1 paper

NM_001735.3

p.F362L

c.1086C>A

1 paper

NM_001735.3

p.F362L

c.1084T>C

1 paper

NM_001735.3

p.L361_F362ins4

c.1081_1085ins12

1 paper

NM_001735.3

p.T359delFs

c.1076delG

1 paper

NM_001735.3

p.L356V

c.1066T>G

5 papers

NM_001735.3

p.L354M

c.1060C>A

1 paper

NM_001735.3

p.K353_L354insFs

c.1059_1060insT