Varaico: Literature-Extracted Genetic Variants

Gene:CCDC30

CCDC30

23 papers

Pfam Domains

DUF4686aa 154–537UCSCDomain of unknown function (DUF4686)

Gene Aliases

HGNC Name

coiled-coil domain containing 30

HGNC Alias Symbols

FLJ20972; PFD6L; LOC728621

Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
2 papers
NM_001395517.1
p.L526F
c.1576C>T
1 paper
NM_001395517.1
p.Y6delFs
c.17delA
1 paper
NM_001395517.1
p.K15_T16delFs
c.45_46delAA
1 paper
NM_001395517.1
p.K15fs
c.43_44fs
1 paper
NM_001395517.1
p.K15insFs
c.44_45insAG
1 paper
NM_001395517.1
p.C20_L21delFs
c.60_61delCC
1 paper
NM_001395517.1
p.D44_E45insAG
c.130_134ins6
1 paper
NM_001395517.1
p.E45_L46del2
c.133_137del6
1 paper
NM_001395517.1
p.L60_K61del2
c.178_182del6
1 paper
NM_001395517.1
p.E121Q
c.361G>C
1 paper
NM_001395517.1
p.L399V
c.1195C>G
1 paper
NM_001395517.1
p.G422E
c.1265G>A
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