Varaico: Literature-Extracted Genetic Variants

Gene:CFAP58
Variant:p.Q199_F200Splc

CFAP58

79 papers

Pfam Domains

CFAP58_CCaa 366–671UCSCCFAP58 central coiled coil

Gene Aliases

HGNC Name

cilia and flagella associated protein 58

HGNC Previous Symbols

C10orf80; CCDC147

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001008723.2
p.Q199_F200Splc
c.597+13G>T
Surrounding Variants
1 paper
NM_001008723.2
p.I197V
c.589A>G
1 paper
NM_001008723.2
p.R188*
c.562C>T
2 papers
NM_001008723.2
p.A177S
c.529G>T
1 paper
NM_001008723.2
p.S175S
c.525C>T
1 paper
NM_001008723.2
p.R173R
c.519A>C
1 paper
NM_001008723.2
p.R173Q
c.518G>A
1 paper
NM_001008723.2
p.F154L
c.462C>A
1 paper
NM_001008723.2
p.F154L
c.462C>G
1 paper
NM_001008723.2
p.F154L
c.460T>C
1 paper
NM_001008723.2
p.Q201_Q202insFs
c.603_604insG
1 paper
NM_001008723.2
p.Q206delFs
c.616delC
1 paper
NM_001008723.2
p.R207C
c.619C>T
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