Varaico: Literature-Extracted Genetic Variants

Gene:CCDC66
Variant:p.S646L

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.S646L
c.1937C>T
Surrounding Variants
1 paper
NM_001141947.3
p.S646S
c.1938G>A
1 paper
NM_001141947.3
p.S642F
c.1925C>T
1 paper
NM_001141947.3
p.S642P
c.1924T>C
1 paper
NM_001141947.3
p.L670I
c.2008T>A
1 paper
NM_001141947.3
p.N675S
c.2024A>G
3 papers
NM_001141947.3
p.T691_K692delFs
c.2072_2075del4
1 paper
NM_001141947.3
p.K692_H693delFs
c.2074_2078del5
1 paper
NM_001141947.3
p.T691fs
c.2071_2072fs
1 paper
NM_001141947.3
p.K699_R700insFs
c.2097_2098ins26
2 papers
NM_001141947.3
p.D702H
c.2104G>C
1 paper
NM_001141947.3
p.P709insFs
c.2125_2126ins26
1 paper
NM_001141947.3
p.P709delFs
c.2127delT
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