Varaico: Literature-Extracted Genetic Variants

Gene:CFAP69
Variant:p.W216*

CFAP69

63 papers

Pfam Domains

CFA69_ARM_rptaa 46–763UCSCCilia- and flagella-associated protein 69, ARM repeat

Gene Aliases

HGNC Name

cilia and flagella associated protein 69

HGNC Previous Symbol

C7orf63

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001039706.3
p.W216*
c.648G>A
Surrounding Variants
4 papers
NM_001039706.3
p.W216*
c.647G>A
1 paper
NM_001039706.3
p.Q222K
c.664C>A
1 paper
NM_001039706.3
p.L207F
c.619C>T
1 paper
NM_001039706.3
p.S227insFs
c.680dupC
1 paper
NM_001039706.3
p.L206delFs
c.616delT
1 paper
NM_001039706.3
p.E228Splc
c.682+1G>A
1 paper
NM_001039706.3
p.V201_Q202insFs
c.603_604insG
1 paper
NM_001039706.3
p.A197T
c.589G>A
1 paper
NM_001039706.3
p.G195delFs
c.585delA
1 paper
NM_001039706.3
p.E228Splc
c.682+50A>C
1 paper
NM_001039706.3
p.S183C
c.547A>T
1 paper
NM_001039706.3
p.V229G
c.686T>G
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