Varaico: Literature-Extracted Genetic Variants

C1QB

57 papers

RefSeq Summary

This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 pol...

Pfam Domains

Collagenaa 28–85UCSCCollagen triple helix repeat (20 copies)

C1qaa 121–245UCSCC1q domain

Gene Aliases

HGNC Name

complement C1q B chain

HGNC Previous Names

complement component 1, q subcomponent, beta polypeptide; complement component 1, q subcomponent, B chain; complement C1q chain B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001378156.1

p.D21N

c.61G>A

Surrounding Variants

1 paper

NM_001378156.1

p.I22I

c.66C>A

1 paper

NM_001378156.1

p.L27F

c.79C>T

1 paper

NM_001378156.1

p.L11L

c.31C>T

1 paper

NM_001378156.1

p.G31G

c.93G>A

1 paper

NM_001378156.1

p.A34T

c.100G>A

1 paper

NM_000491.5

p.G42D

c.125G>A

NM_001378156.1

p.G40D

c.119G>A

1 paper

NM_001378156.1

p.P42A

c.124C>G

2 papers

NM_001378156.1

p.G58G

c.174A>T

1 paper

NM_000491.5

p.G63Splc

c.187+1G>T

NM_001378156.1

p.G61Splc

c.181+1G>T

1 paper

NM_001378156.1

p.A66S

c.196G>T

1 paper

NM_001378156.1

p.G73R

c.217G>A

1 paper

NM_001378156.1

p.G73R

c.217G>C