Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF5
Variant:p.P201S

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.P201S
c.601C>T
Surrounding Variants
1 paper
NM_001278431.2
p.E200Q
c.598G>C
1 paper
NM_001278431.2
p.M196fs
c.586_587fs
1 paper
NM_001278431.2
p.A195insFs
c.585dupC
1 paper
NM_001278431.2
p.A195fs
c.583_584fs
1 paper
NM_001278431.2
p.A195G
c.584C>G
1 paper
NM_001278431.2
p.A195insFs
c.583dupG
1 paper
NM_001278431.2
p.A195delFs
c.583delC
1 paper
NM_001278431.2
p.A195T
c.583G>A
1 paper
NM_001278431.2
p.A195fs
c.583_584fs
1 paper
NM_001278431.2
p.Q208H
c.624G>T
1 paper
NM_001278431.2
p.Q208H
c.624G>C
1 paper
NM_001278431.2
p.V209M
c.625G>A
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