Varaico: Literature-Extracted Genetic Variants

Gene:CCDC17
Variant:p.T15delFs

CCDC17

57 papers

Pfam Domains

CCDC17_middle_coilaa 240–316UCSCCCDC17 middle coiled-coil domain
CCDC17_Caa 399–565UCSCCCDC17 C-terminal domain

Gene Aliases

HGNC Name

coiled-coil domain containing 17

HGNC Alias Symbol

FLJ33084

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001114938.3
p.T15delFs
c.43delT
Surrounding Variants
1 paper
NM_001114938.3
p.G45E
c.134G>A
1 paper
NM_001114938.3
p.R56Q
c.167G>A
1 paper
NM_001114938.3
p.A57V
c.170C>T
1 paper
NM_001114938.3
p.A58_V59Splc
c.174+7G>A
2 papers
NM_001114938.3
p.Q62*
c.184C>T
2 papers
NM_001114938.3
p.Q72*
c.214C>T
1 paper
NM_001114938.3
p.A79G
c.236C>G
1 paper
NM_001114938.3
p.S82F
c.245C>T
1 paper
NM_001114938.3
p.S97S
c.291C>T
1 paper
NM_001114938.3
p.P123T
c.367C>A
1 paper
NM_001114938.3
p.Q124R
c.371A>G
1 paper
NM_001114938.3
p.E129K
c.385G>A
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