Varaico: Literature-Extracted Genetic Variants

Gene:CFAP184
Variant:p.E548fs

CFAP184

48 papers

Pfam Domains

CCDC113_CCDC96_CCaa 365–541UCSCCCDC113/CCDC96, coiled-coil

Gene Aliases

HGNC Name

cilia and flagella associated protein 184

HGNC Previous Symbol

CCDC96

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153376.3
p.E548fs
c.1642_1643fs
Surrounding Variants
1 paper
NM_153376.3
p.E548delFs
c.1642delC
1 paper
NM_153376.3
p.S527F
c.1580C>T
1 paper
NM_153376.3
p.L520L
c.1560G>A
1 paper
NM_153376.3
p.E512K
c.1534G>A
1 paper
NM_153376.3
p.L501V
c.1501C>G
1 paper
NM_153376.3
p.A472V
c.1415C>T
1 paper
NM_153376.3
p.A472T
c.1414G>A
1 paper
NM_153376.3
p.E468K
c.1402G>A
1 paper
NM_153376.3
p.A458G
c.1373C>G
1 paper
NM_153376.3
p.K447fs
c.1339_1340fs
1 paper
NM_153376.3
p.V446_K447insFs
c.1338_1339insC
1 paper
NM_153376.3
p.H445N
c.1333C>A
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