Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF5
Variant:p.S163R

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
Selected Variant
83 papers
NM_001278431.2
p.S163R
c.489C>A
Surrounding Variants
84 papers
NM_001278431.2
p.S163R
c.489C>G
84 papers
NM_001278431.2
p.S163R
c.487A>C
1 paper
NM_001278431.2
p.A162T
c.484G>A
1 paper
NM_001278431.2
p.Q165H
c.495G>T
1 paper
NM_001278431.2
p.Q165H
c.495G>C
1 paper
NM_001278431.2
p.A157V
c.470C>T
1 paper
NM_001278431.2
p.I175V
c.523A>G
1 paper
NM_001278431.2
p.V150F
c.448G>T
2 papers
NM_001278431.2
p.G149A
c.446G>C
1 paper
NM_001278431.2
p.P148A
c.442C>G
4 papers
NM_001278431.2
p.Q180E
c.538C>G
1 paper
NM_001278431.2
p.C145Y
c.434G>A
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