Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF5
Variant:p.K65K

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.K65K
c.195A>G
Surrounding Variants
1 paper
NM_001278431.2
p.K65N
c.195A>T
1 paper
NM_001278431.2
p.E67*
c.199G>T
1 paper
NM_001278431.2
p.E67K
c.199G>A
1 paper
NM_001278431.2
p.P71Q
c.212C>A
1 paper
NM_001278431.2
p.G72Splc
c.214+1G>A
1 paper
NM_001278431.2
p.R55_G57ins1
c.163_171dup9
1 paper
NM_001278431.2
p.P29S
c.85C>T
1 paper
NM_001278431.2
p.P25S
c.73C>T
1 paper
NM_001278431.2
p.N22_K23del1
c.66_68delTTG
2 papers
NM_001278431.2
p.G15S
c.43G>A
1 paper
NM_001278431.2
p.L8Q
c.23T>A
1 paper
NM_001278431.2
p.G72Splc
c.215-7C>G
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