Varaico: Literature-Extracted Genetic Variants

Gene:CCDC54
Variant:p.E144K

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
1 paper
NM_032600.3
p.E144K
c.430G>A
Surrounding Variants
1 paper
NM_032600.3
p.E142K
c.424G>A
1 paper
NM_032600.3
p.T141A
c.421A>G
2 papers
NM_032600.3
p.S148F
c.443C>T
1 paper
NM_032600.3
p.K137K
c.411G>A
1 paper
NM_032600.3
p.M129I
c.387G>A
1 paper
NM_032600.3
p.M129I
c.387G>C
1 paper
NM_032600.3
p.M129I
c.387G>T
1 paper
NM_032600.3
p.D117fs
c.349_350fs
1 paper
NM_032600.3
p.D117_K118delFs
c.350_353del4
1 paper
NM_032600.3
p.E116K
c.346G>A
1 paper
NM_032600.3
p.D187Y
c.559G>T
1 paper
NM_032600.3
p.H89Y
c.265C>T
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