Varaico: Literature-Extracted Genetic Variants

Gene:C1QL1
Variant:p.P59S

C1QL1

109 papers

Pfam Domains

Collagenaa 65–121UCSCCollagen triple helix repeat (20 copies)
C1qaa 131–255UCSCC1q domain

Gene Aliases

HGNC Name

complement C1q like 1

HGNC Alias Symbols

CRF; C1QRF; C1QTNF14; CTRP14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006688.5
p.P59S
c.175C>T
Surrounding Variants
1 paper
NM_006688.5
p.P59A
c.175C>G
1 paper
NM_006688.5
p.A58T
c.172G>A
1 paper
NM_006688.5
p.G57G
c.171C>A
1 paper
NM_006688.5
p.T63A
c.187A>G
1 paper
NM_006688.5
p.T63P
c.187A>C
1 paper
NM_006688.5
p.L52_E54Fs
c.154_162delinsTCCTGTTFs
1 paper
NM_006688.5
p.L64P
c.191T>C
2 papers
NM_006688.5
p.Q66R
c.197A>G
1 paper
NM_006688.5
p.P68S
c.202C>T
1 paper
NM_006688.5
p.P68L
c.203C>T
1 paper
NM_006688.5
p.Q69R
c.206A>G
1 paper
NM_006688.5
p.G48V
c.143G>T
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