Varaico: Literature-Extracted Genetic Variants

Gene:CCDC54

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
1–12 of 41 variants
3 papers
NM_032600.3
p.R38Q
c.113G>A
3 papers
NM_032600.3
p.I213T
c.638T>C
3 papers
NM_032600.3
p.M217fs
c.649_650fs
2 papers
NM_032600.3
p.S148F
c.443C>T
2 papers
NM_032600.3
p.R223H
c.668G>A
1 paper
NM_032600.3
p.Y2N
c.4T>A
1 paper
NM_032600.3
p.R8G
c.22A>G
1 paper
NM_032600.3
p.T47T
c.141T>A
1 paper
NM_032600.3
p.D86E
c.258C>A
1 paper
NM_032600.3
p.H89Y
c.265C>T
1 paper
NM_032600.3
p.E116K
c.346G>A
1 paper
NM_032600.3
p.D117fs
c.349_350fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."