Varaico: Literature-Extracted Genetic Variants

Gene:CCDC66
Variant:p.E729*

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
1 paper
NM_001141947.3
p.E729*
c.2185G>T
Surrounding Variants
1 paper
NM_001141947.3
p.V732_R733delFs
c.2195_2198del4
1 paper
NM_001141947.3
p.R734_E743insFs
c.2202_2227dup26
1 paper
NM_001141947.3
p.Q724_K725insCTC
c.2170_2174ins9
1 paper
NM_001141947.3
p.Q735*
c.2203C>T
1 paper
NM_001141947.3
p.P720delFs
c.2159delC
1 paper
NM_001141947.3
p.L739insFs
c.2215_2216insG
1 paper
NM_001141947.3
p.L739_H740insFs
c.2217_2218insG
1 paper
NM_001141947.3
p.S716insFs
c.2147_2148ins4
1 paper
NM_001141947.3
p.V742delFs
c.2226delA
1 paper
NM_001141947.3
p.N745insFs
c.2234dupA
1 paper
NM_001141947.3
p.A715insFs
c.2143_2144ins4
1 paper
NM_001141947.3
p.R711R
c.2131A>C
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