Varaico: Literature-Extracted Genetic Variants

Gene:CCDC54
Variant:p.R223H

CCDC54

35 papers

Pfam Domains

CCDC54aa 1–328UCSCCoiled-coil domain-containing protein 54

Gene Aliases

HGNC Name

coiled-coil domain containing 54

HGNC Alias Symbols

NYD-SP17; FLJ25362; SP17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032600.3
p.R223H
c.668G>A
Surrounding Variants
1 paper
NM_032600.3
p.N224K
c.672C>A
1 paper
NM_032600.3
p.N224K
c.672C>G
1 paper
NM_032600.3
p.M217I
c.651G>A
1 paper
NM_032600.3
p.M217I
c.651G>C
1 paper
NM_032600.3
p.M217I
c.651G>T
3 papers
NM_032600.3
p.M217fs
c.649_650fs
1 paper
NM_032600.3
p.M217_K218delFs
c.650_654del5
1 paper
NM_032600.3
p.E233K
c.697G>A
3 papers
NM_032600.3
p.I213T
c.638T>C
1 paper
NM_032600.3
p.A235T
c.703G>A
1 paper
NM_032600.3
p.L208V
c.622C>G
1 paper
NM_032600.3
p.W248*
c.743G>A
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