Varaico: Literature-Extracted Genetic Variants

C9

430 papers

RefSeq Summary

This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitti...

Pfam Domains

TSP_1aa 46–94UCSCThrombospondin type 1 domain

Ldl_recept_aaa 99–134UCSCLow-density lipoprotein receptor domain class A

MACPFaa 270–501UCSCMAC/Perforin domain

Gene Aliases

HGNC Name

complement C9

HGNC Previous Name

complement component 9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001737.5

p.T170I

c.509C>T

Surrounding Variants

1 paper

NM_001737.5

p.D173V

c.518A>T

50 papers

NM_001737.5

p.P167S

c.499C>T

1 paper

NM_001737.5

p.E175A

c.524A>C

1 paper

NM_001737.5

p.C181S

c.541T>A

1 paper

NM_001737.5

p.C181S

c.542G>C

1 paper

NM_001737.5

p.C181Y

c.542G>A

1 paper

NM_001737.5

p.R183G

c.547C>G

1 paper

NM_001737.5

p.D184G

c.551A>G

1 paper

NM_001737.5

p.R185R

c.553C>A

1 paper

NM_001737.5

p.N188Y

c.562A>T

1 paper

NM_001737.5

p.R194*

c.580C>T

1 paper

NM_001737.5

p.N198Y

c.592A>T