Varaico: Literature-Extracted Genetic Variants

Gene:CCDC30
Variant:p.K457Q

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
Selected Variant
1 paper
NM_001395517.1
p.K457Q
c.1369A>C
Surrounding Variants
1 paper
NM_001395517.1
p.L512V
c.1534T>G
2 papers
NM_001395517.1
p.L526F
c.1576C>T
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