Varaico: Literature-Extracted Genetic Variants

Gene:CFAP58
Variant:p.R698Q

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.R698Q
c.2093G>A
Surrounding Variants
1 paper
NM_001008723.2
p.R698*
c.2092C>T
3 papers
NM_001008723.2
p.R696C
c.2086C>T
1 paper
NM_001008723.2
p.Q687insFs
c.2061dupA
1 paper
NM_001008723.2
p.V710M
c.2128G>A
1 paper
NM_001008723.2
p.F684delFs
c.2052delT
2 papers
NM_001008723.2
p.A674S
c.2020G>T
1 paper
NM_001008723.2
p.M673T
c.2018T>C
1 paper
NM_001008723.2
p.A718P
c.2152G>C
1 paper
NM_001008723.2
p.A718V
c.2153C>T
1 paper
NM_001008723.2
p.Q728*
c.2182C>T
1 paper
NM_001008723.2
p.E658D
c.1974G>C
1 paper
NM_001008723.2
p.E658D
c.1974G>T
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