Varaico: Literature-Extracted Genetic Variants

Gene:CFAP300
Variant:p.I250_R251insFs

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.I250_R251insFs
c.748_751dup4
Surrounding Variants
1 paper
NM_032930.3
p.P249S
c.745C>T
1 paper
NM_032930.3
p.S243Y
c.728C>A
1 paper
NM_032930.3
p.Y258C
c.773A>G
5 papers
NM_032930.3
p.H259R
c.776A>G
1 paper
NM_032930.3
p.E239K
c.715G>A
1 paper
NM_032930.3
p.C231_Y232insFs
c.693_694insGA
1 paper
NM_032930.3
p.*268E
c.802T>G
1 paper
NM_032930.3
p.C231fs
c.691_692fs
1 paper
NM_032930.3
p.S227C
c.680C>G
1 paper
NM_032930.3
p.T210delFs
c.630delC
1 paper
NM_032930.3
p.R205P
c.614G>C
1 paper
NM_032930.3
p.V202delFs
c.604delG
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