Varaico: Literature-Extracted Genetic Variants

Gene:C1QL1
Variant:p.P171S

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
1 paper
NM_006688.5
p.P171S
c.511C>T
Surrounding Variants
1 paper
NM_006688.5
p.D160Y
c.478G>T
1 paper
NM_006688.5
p.D160N
c.478G>A
1 paper
NM_006688.5
p.W191*
c.572G>A
1 paper
NM_006688.5
p.W191*
c.573G>A
1 paper
NM_006688.5
p.Y143F
c.428A>T
1 paper
NM_006688.5
p.Y143C
c.428A>G
1 paper
NM_006688.5
p.Y143H
c.427T>C
1 paper
NM_006688.5
p.P139T
c.415C>A
1 paper
NM_006688.5
p.N138I
c.413A>T
1 paper
NM_006688.5
p.Y133H
c.397T>C
1 paper
NM_006688.5
p.A122D
c.365C>A
1 paper
NM_006688.5
p.A118G
c.353C>G
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