Varaico: Literature-Extracted Genetic Variants

Gene:CCDC17
Variant:p.T284A

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.T284A
c.850A>G
Surrounding Variants
1 paper
NM_001114938.3
p.Q283*
c.847C>T
1 paper
NM_001114938.3
p.R285G
c.853C>G
1 paper
NM_001114938.3
p.R285H
c.854G>A
1 paper
NM_001114938.3
p.R304W
c.910C>T
1 paper
NM_001114938.3
p.R304P
c.911G>C
1 paper
NM_001114938.3
p.S224F
c.671C>T
1 paper
NM_001114938.3
p.G219Splc
c.657-1G>C
1 paper
NM_001114938.3
p.A312fs
c.934_935fs
1 paper
NM_001114938.3
p.L313S
c.938T>C
2 papers
NM_001114938.3
p.P321L
c.962C>T
1 paper
NM_001114938.3
p.L322S
c.965T>C
1 paper
NM_001114938.3
p.L214_P218del0
c.641_652del12
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