Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF5
Variant:p.G96_E97delFs

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.G96_E97delFs
c.287_291del5
Surrounding Variants
1 paper
NM_001278431.2
p.C98W
c.294C>G
1 paper
NM_001278431.2
p.S99P
c.295T>C
1 paper
NM_001278431.2
p.T92T
c.276C>T
1 paper
NM_001278431.2
p.R103R
c.309A>C
1 paper
NM_001278431.2
p.S104P
c.310T>C
1 paper
NM_001278431.2
p.P91fs
c.271_272fs
1 paper
NM_001278431.2
p.P91P
c.273C>A
1 paper
NM_001278431.2
p.P91S
c.271C>T
2 papers
NM_001278431.2
p.G90insFs
c.270dupG
1 paper
NM_001278431.2
p.P88L
c.263C>T
1 paper
NM_001278431.2
p.R110L
c.329G>T
1 paper
NM_001278431.2
p.F106_S111del6
c.316_332del18
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