Varaico: Literature-Extracted Genetic Variants

C1QA

97 papers

RefSeq Summary

This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associa...

Pfam Domains

Collagenaa 60–112UCSCCollagen triple helix repeat (20 copies)

C1qaa 116–241UCSCC1q domain

Gene Aliases

HGNC Name

complement C1q A chain

HGNC Previous Names

complement component 1, q subcomponent, alpha polypeptide; complement component 1, q subcomponent, A chain; complement C1q chain A

Papers

RefSeq ID

Protein change

DNA change

1–12 of 82 variants

15 papers

NM_015991.4

p.Q208*

c.622C>T

8 papers

NM_015991.4

p.G92G

c.276A>G

3 papers

NM_015991.4

p.E23K

c.67G>A

3 papers

NM_015991.4

p.I99L

c.295A>C

3 papers

NM_015991.4

p.G157D

c.470G>A

2 papers

NM_015991.4

p.I15delFs

c.44delT

2 papers

NM_015991.4

p.R27*

c.79C>T

2 papers

NM_015991.4

p.G31R

c.91G>A

2 papers

NM_015991.4

p.G31R

c.91G>C

2 papers

NM_015991.4

p.R42Q

c.125G>A

2 papers

NM_015991.4

p.G43R

c.127G>C

2 papers

NM_015991.4

p.R60W

c.178C>T