Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF5

C1QTNF5

143 papers

RefSeq Summary

This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset r...

Pfam Domains

Collagenaa 27–101UCSCCollagen triple helix repeat (20 copies)
C1qaa 105–232UCSCC1q domain

Gene Aliases

HGNC Name

C1q and TNF related 5

HGNC Alias Symbols

CTRP5; DKFZp586B0621; LORD

Papers
RefSeq ID
Protein change
DNA change
1–12 of 101 variants
84 papers
NM_001278431.2
p.S163R
c.487A>C
84 papers
NM_001278431.2
p.S163R
c.489C>G
83 papers
NM_001278431.2
p.S163R
c.489C>A
14 papers
NM_001278431.2
p.P188T
c.562C>A
9 papers
NM_001278431.2
p.G216C
c.646G>T
7 papers
NM_001278431.2
p.P186S
c.556C>T
7 papers
NM_001278431.2
p.S190W
c.569C>G
4 papers
NM_001278431.2
p.Q180E
c.538C>G
3 papers
NM_001278431.2
p.D235N
c.703G>A
2 papers
NM_001278431.2
p.G15S
c.43G>A
2 papers
NM_001278431.2
p.G90insFs
c.270dupG
2 papers
NM_001278431.2
p.R114Q
c.341G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."