Varaico: Literature-Extracted Genetic Variants

Gene:CFAP119
Variant:p.M1K

CFAP119

25 papers

Pfam Domains

CLAMPaa 126–224UCSCFlagellar C1a complex subunit C1a-32

Gene Aliases

HGNC Name

cilia and flagella associated protein 119

HGNC Previous Symbols

C16orf93; CCDC189

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001014979.3
p.M1K
c.2T>A
Surrounding Variants
1 paper
NM_001014979.3
p.L24fs
c.70_71fs
3 papers
NM_001014979.3
p.A28T
c.82G>A
1 paper
NM_001014979.3
p.A56_K57ins1
c.168_169insGCG
1 paper
NM_001014979.3
p.A58_D59ins2
c.174_175ins6
1 paper
NM_001014979.3
p.P62L
c.185C>T
1 paper
NM_001014979.3
p.T94N
c.281C>A
1 paper
NM_001014979.3
p.E100Splc
c.299+1G>T
1 paper
NM_001014979.3
p.D122N
c.364G>A
1 paper
NM_001014979.3
p.C145F
c.434G>T
1 paper
NM_001014979.3
p.Q149K
c.445C>A
1 paper
NM_001014979.3
p.A157Splc
c.469+1G>A
1 paper
NM_001014979.3
p.R168_Y169insGCG
c.502_506ins9
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