Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF5
Variant:p.Q208H

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.Q208H
c.624G>C
Surrounding Variants
1 paper
NM_001278431.2
p.Q208H
c.624G>T
1 paper
NM_001278431.2
p.V209M
c.625G>A
1 paper
NM_001278431.2
p.V209A
c.626T>C
1 paper
NM_001278431.2
p.G212S
c.634G>A
1 paper
NM_001278431.2
p.I215T
c.644T>C
9 papers
NM_001278431.2
p.G216C
c.646G>T
1 paper
NM_001278431.2
p.P201S
c.601C>T
1 paper
NM_001278431.2
p.E200Q
c.598G>C
1 paper
NM_001278431.2
p.I217M
c.651C>G
1 paper
NM_001278431.2
p.Y218F
c.653A>T
1 paper
NM_001278431.2
p.M196fs
c.586_587fs
1 paper
NM_001278431.2
p.A195insFs
c.585dupC
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