Varaico: Literature-Extracted Genetic Variants

Gene:CFAP184
Variant:p.A458G

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.A458G
c.1373C>G
Surrounding Variants
1 paper
NM_153376.3
p.E468K
c.1402G>A
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
1 paper
NM_153376.3
p.A472T
c.1414G>A
1 paper
NM_153376.3
p.A472V
c.1415C>T
1 paper
NM_153376.3
p.I443fs
c.1327_1328fs
1 paper
NM_153376.3
p.I443insFs
c.1327_1328ins40
1 paper
NM_153376.3
p.V442G
c.1325T>G
1 paper
NM_153376.3
p.R433H
c.1298G>A
1 paper
NM_153376.3
p.R425*
c.1273C>T
1 paper
NM_153376.3
p.L501V
c.1501C>G
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