Varaico: Literature-Extracted Genetic Variants

Gene:CCDC144A
Variant:p.E1186K

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
2 papers
NM_001382000.1
p.E1186K
c.3556G>A
Surrounding Variants
1 paper
NM_001382000.1
p.M1189T
c.3566T>C
1 paper
NM_001382000.1
p.V1179A
c.3536T>C
1 paper
NM_001382000.1
p.E1209K
c.3625G>A
2 papers
NM_001382000.1
p.S1264L
c.3791C>T
1 paper
NM_001382000.1
p.D1267Y
c.3799G>T
1 paper
NM_001382000.1
p.R1327S
c.3981G>C
1 paper
NM_001382000.1
p.R1327S
c.3981G>T
1 paper
NM_001382000.1
p.S1332insFs
c.3995_3996insT
1 paper
NM_001382000.1
p.P1333fs
c.3997_3998fs
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