Varaico: Literature-Extracted Genetic Variants

Gene:CCDC14
Variant:p.S246insFs

CCDC14

30 papers

Pfam Domains

CCDC14aa 49–79UCSCCoiled-coil domain-containing protein 14
CCDC14aa 76–864UCSCCoiled-coil domain-containing protein 14

Gene Aliases

HGNC Name

coiled-coil domain containing 14

HGNC Alias Symbols

FLJ12892; DKFZp434L1050

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366335.1
p.S246insFs
c.736_737insAA
Surrounding Variants
1 paper
NM_001366335.1
p.R254W
c.760C>T
1 paper
NM_001366335.1
p.G262delFs
c.785delC
1 paper
NM_001366335.1
p.I293N
c.878T>A
1 paper
NM_001366335.1
p.T317P
c.949A>C
1 paper
NM_001366335.1
p.T351T
c.1053A>G
1 paper
NM_001366335.1
p.K387delFs
c.1161delT
1 paper
NM_001366335.1
p.E399_Q400del1
c.1197_1199delTGT
1 paper
NM_001366335.1
p.E399_Q400del2
c.1195_1199del6
1 paper
NM_001366335.1
p.V214L
c.640G>C
1 paper
NM_001366335.1
p.S204F
c.611C>T
1 paper
NM_001366335.1
p.R133_S134delFs
c.399_400delTT
1 paper
NM_001366335.1
p.S131P
c.391T>C
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