Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF1
Variant:p.A53S

C1QTNF1

91 papers

Pfam Domains

Collagenaa 97–144UCSCCollagen triple helix repeat (20 copies)
C1qaa 147–275UCSCC1q domain

Gene Aliases

HGNC Name

C1q and TNF related 1

HGNC Alias Symbols

CTRP1; ZSIG37; FLJ90694

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030968.5
p.A53S
c.157G>T
Surrounding Variants
2 papers
NM_030968.5
p.A53T
c.157G>A
2 papers
NM_030968.5
p.A53P
c.157G>C
1 paper
NM_030968.5
p.A53D
c.158C>A
1 paper
NM_030968.5
p.A53G
c.158C>G
2 papers
NM_030968.5
p.A53V
c.158C>T
1 paper
NM_030968.5
p.R52Splc
c.156-2A>G
1 paper
NM_030968.5
p.E54K
c.160G>A
1 paper
NM_030968.5
p.E54Q
c.160G>C
1 paper
NM_030968.5
p.E54A
c.161A>C
1 paper
NM_030968.5
p.E54G
c.161A>G
1 paper
NM_030968.5
p.E54V
c.161A>T
1 paper
NM_030968.5
p.E54D
c.162A>C
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