Varaico: Literature-Extracted Genetic Variants

Gene:C12orf56
Variant:p.K269*

C12orf56

31 papers

Pfam Domains

DUF4551aa 11–620UCSCProtein of unknown function (DUF4551)

Gene Aliases

HGNC Name

chromosome 12 open reading frame 56

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001170633.2
p.K269*
c.805A>T
Surrounding Variants
1 paper
NM_001170633.2
p.N246N
c.738T>C
1 paper
NM_001170633.2
p.K290_N294del5
c.868_881del15
1 paper
NM_001170633.2
p.S235delins
c.703delinsAACT
1 paper
NM_001170633.2
p.S235T
c.703T>A
2 papers
NM_001170633.2
p.N234_S235ins1
c.702_703insAAC
1 paper
NM_001170633.2
p.N234ins1
c.701_702insCAA
1 paper
NM_001170633.2
p.T224delFs
c.671delG
1 paper
NM_001170633.2
p.T224fs
c.670_671fs
1 paper
NM_001170633.2
p.T210I
c.629C>T
1 paper
NM_001170633.2
p.P200T
c.598C>A
1 paper
NM_001170633.2
p.R195*
c.583C>T
1 paper
NM_001170633.2
p.R180H
c.539G>A
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