Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF5
Variant:p.I175V

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
1 paper
NM_001278431.2
p.I175V
c.523A>G
Surrounding Variants
4 papers
NM_001278431.2
p.Q180E
c.538C>G
1 paper
NM_001278431.2
p.G183A
c.548G>C
1 paper
NM_001278431.2
p.Q165H
c.495G>T
1 paper
NM_001278431.2
p.Q165H
c.495G>C
7 papers
NM_001278431.2
p.P186S
c.556C>T
84 papers
NM_001278431.2
p.S163R
c.489C>G
83 papers
NM_001278431.2
p.S163R
c.489C>A
84 papers
NM_001278431.2
p.S163R
c.487A>C
1 paper
NM_001278431.2
p.K187N
c.561G>T
1 paper
NM_001278431.2
p.K187N
c.561G>C
1 paper
NM_001278431.2
p.A162T
c.484G>A
1 paper
NM_001278431.2
p.P188A
c.562C>G
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