Varaico: Literature-Extracted Genetic Variants

Gene:C1QC
Variant:p.P71delFs

C1QC

77 papers

RefSeq Summary

This gene encodes the C-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 58–117UCSCCollagen triple helix repeat (20 copies)
C1qaa 121–242UCSCC1q domain

Gene Aliases

HGNC Name

complement C1q C chain

HGNC Previous Symbol

C1QG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_172369.5
p.P71delFs
c.213delC
Surrounding Variants
7 papers
NM_172369.5
p.R69*
c.205C>T
1 paper
NM_172369.5
p.I68L
c.202A>C
1 paper
NM_172369.5
p.G67G
c.201G>A
1 paper
NM_172369.5
p.Q74fs
c.220_221fs
1 paper
NM_172369.5
p.P66T
c.196C>A
2 papers
NM_172369.5
p.G76R
c.226G>A
2 papers
NM_172369.5
p.G76R
c.226G>C
1 paper
NM_172369.5
p.P89L
c.266C>T
1 paper
NM_172369.5
p.G91R
c.271G>A
1 paper
NM_172369.5
p.G91R
c.271G>C
2 papers
NM_172369.5
p.G91*
c.271G>T
1 paper
NM_172369.5
p.P96R
c.287C>G
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