Varaico: Literature-Extracted Genetic Variants

Gene:CCDC144A
Variant:p.K217N

CCDC144A

39 papers

Pfam Domains

CCDC144Caa 703–1184UCSCCCDC144C protein coiled-coil region
DUF3496aa 1244–1354UCSCDomain of unknown function (DUF3496)

Gene Aliases

HGNC Name

coiled-coil domain containing 144A

HGNC Alias Symbols

KIAA0565; FLJ43983

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001382000.1
p.K217N
c.651A>C
Surrounding Variants
1 paper
NM_001382000.1
p.G283_K284delFs
c.847_851del5
1 paper
NM_001382000.1
p.G283fs
c.847_848fs
1 paper
NM_001382000.1
p.L320L
c.960A>G
1 paper
NM_001382000.1
p.R326T
c.977G>C
1 paper
NM_001382000.1
p.N339T
c.1016A>C
1 paper
NM_001382000.1
p.N340T
c.1019A>C
1 paper
NM_001382000.1
p.S350C
c.1049C>G
1 paper
NM_001382000.1
p.E512D
c.1536G>C
1 paper
NM_001382000.1
p.E512D
c.1536G>T
1 paper
NM_001382000.1
p.L516F
c.1548G>C
1 paper
NM_001382000.1
p.L516F
c.1548G>T
1 paper
NM_001382000.1
p.K517N
c.1551G>C
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