Varaico: Literature-Extracted Genetic Variants

Gene:CFAP184

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
1–12 of 59 variants
4 papers
NM_153376.3
p.P40_G41insFs
c.120_121ins7
3 papers
NM_153376.3
p.G41fs
c.121_122fs
3 papers
NM_153376.3
p.L120_E121ins7
c.358_362ins21
2 papers
NM_153376.3
p.P35T
c.103C>A
1 paper
NM_153376.3
p.K29R
c.86A>G
1 paper
NM_153376.3
p.P38_P40insFs
c.114_120dup7
1 paper
NM_153376.3
p.G41fs
c.121_122fs
1 paper
NM_153376.3
p.E53del1
c.157_159delCTC
1 paper
NM_153376.3
p.Q66*
c.196C>T
1 paper
NM_153376.3
p.E82Q
c.244G>C
1 paper
NM_153376.3
p.E96K
c.286G>A
1 paper
NM_153376.3
p.V103V
c.309T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."