Varaico: Literature-Extracted Genetic Variants

Gene:CCDC117

CCDC117

11 papers

Pfam Domains

CCDC117aa 141–279UCSCCoiled-coil domain-containing protein 117

Gene Aliases

HGNC Name

coiled-coil domain containing 117

HGNC Alias Symbol

FLJ33814

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_173510.4
p.M1Fs
c.2delinsTTFs
1 paper
NM_173510.4
p.L13V
c.37C>G
1 paper
NM_173510.4
p.P28L
c.83C>T
1 paper
NM_173510.4
p.K68E
c.202A>G
1 paper
NM_173510.4
p.R73_E74ins1
c.219_220insGAG
1 paper
NM_173510.4
p.D78E
c.234T>A
1 paper
NM_173510.4
p.D78E
c.234T>G
1 paper
NM_173510.4
p.D79E
c.237T>G
1 paper
NM_173510.4
p.S219_D220insGAG
c.655_659ins9
1 paper
NM_173510.4
p.A237G
c.710C>G
1 paper
NM_173510.4
p.S272N
c.815G>A
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