Varaico: Literature-Extracted Genetic Variants

Gene:CFAP300
Variant:p.P102delFs

CFAP300

45 papers

Pfam Domains

CFAP300aa 11–259UCSCCilia- and flagella-associated protein 300

Gene Aliases

HGNC Name

cilia and flagella associated protein 300

HGNC Previous Symbol

C11orf70

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032930.3
p.P102delFs
c.304delC
Surrounding Variants
1 paper
NM_032930.3
p.P102fs
c.304_305fs
1 paper
NM_032930.3
p.C103*
c.309C>A
4 papers
NM_032930.3
p.A98_L106del9
c.292_317del27
1 paper
NM_032930.3
p.E97*
c.289G>T
4 papers
NM_032930.3
p.D118G
c.353A>G
9 papers
NM_032930.3
p.R121*
c.361C>T
4 papers
NM_032930.3
p.R145*
c.433A>T
1 paper
NM_032930.3
p.L76F
c.228G>C
1 paper
NM_032930.3
p.L76F
c.228G>T
1 paper
NM_032930.3
p.N75_S80insFs
c.224_240dup17
2 papers
NM_032930.3
p.F67S
c.200T>C
1 paper
NM_032930.3
p.F67fs
c.199_200fs
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