Varaico: Literature-Extracted Genetic Variants

Gene:CFAP58
Variant:p.R207C

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.R207C
c.619C>T
Surrounding Variants
1 paper
NM_001008723.2
p.Q206delFs
c.616delC
1 paper
NM_001008723.2
p.E210K
c.628G>A
1 paper
NM_001008723.2
p.Q201_Q202insFs
c.603_604insG
1 paper
NM_001008723.2
p.R216Q
c.647G>A
2 papers
NM_001008723.2
p.E222K
c.664G>A
1 paper
NM_001008723.2
p.Q227insFs
c.680dupA
1 paper
NM_001008723.2
p.M232R
c.695T>G
1 paper
NM_001008723.2
p.T237I
c.710C>T
1 paper
NM_001008723.2
p.I239insFs
c.715dupA
1 paper
NM_001008723.2
p.Q199_F200Splc
c.597+13G>T
1 paper
NM_001008723.2
p.I197V
c.589A>G
1 paper
NM_001008723.2
p.R188*
c.562C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."