Varaico: Literature-Extracted Genetic Variants

Gene:CCDC66
Variant:p.E283*

CCDC66

98 papers

Pfam Domains

CCDC66aa 411–564UCSCCoiled-coil domain-containing protein 66

Gene Aliases

HGNC Name

coiled-coil domain containing 66

HGNC Alias Symbol

DKFZp686C0433

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001141947.3
p.E283*
c.847G>T
Surrounding Variants
1 paper
NM_001141947.3
p.E283delFs
c.847_848delGA
1 paper
NM_001141947.3
p.K282_E283delFs
c.846_849del4
1 paper
NM_001141947.3
p.K282insFs
c.846dupA
1 paper
NM_001141947.3
p.E281_K282delFs
c.841_844del4
1 paper
NM_001141947.3
p.N289delFs
c.867delT
1 paper
NM_001141947.3
p.D272V
c.815A>T
1 paper
NM_001141947.3
p.K294N
c.882A>C
1 paper
NM_001141947.3
p.K294N
c.882A>T
1 paper
NM_001141947.3
p.S295Y
c.884C>A
1 paper
NM_001141947.3
p.K299_I301delFs
c.897_901del5
1 paper
NM_001141947.3
p.K304E
c.910A>G
1 paper
NM_001141947.3
p.D272V
c.815A>T
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