Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF5
Variant:p.W236S

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.W236S
c.707G>C
Surrounding Variants
1 paper
NM_001278431.2
p.H237D
c.709C>G
3 papers
NM_001278431.2
p.D235N
c.703G>A
1 paper
NM_001278431.2
p.S234F
c.701C>T
1 paper
NM_001278431.2
p.S239P
c.715T>C
1 paper
NM_001278431.2
p.Y233C
c.698A>G
1 paper
NM_001278431.2
p.A243S
c.727G>T
1 paper
NM_001278431.2
p.G229A
c.686G>C
1 paper
NM_001278431.2
p.D224E
c.672C>G
1 paper
NM_001278431.2
p.D224E
c.672C>A
1 paper
NM_001278431.2
p.D224N
c.670G>A
1 paper
NM_001278431.2
p.Y218F
c.653A>T
1 paper
NM_001278431.2
p.I217M
c.651C>G
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