Varaico: Literature-Extracted Genetic Variants

Gene:CFAP54

CFAP54

110 papers

Pfam Domains

CFAP54_Naa 99–638UCSCCilia- and flagella-associated protein 54

Gene Aliases

HGNC Name

cilia and flagella associated protein 54

HGNC Previous Symbols

C12orf63; C12orf55

Papers
RefSeq ID
Protein change
DNA change
1–12 of 270 variants
3 papers
NM_001306084.2
p.R319C
c.955C>T
3 papers
NM_001306084.2
p.K618*
c.1852A>T
2 papers
NM_001306084.2
p.S34L
c.101C>T
2 papers
NM_001306084.2
p.R293H
c.878G>A
2 papers
NM_001306084.2
p.G313R
c.937G>A
2 papers
NM_001306084.2
p.G313R
c.937G>C
2 papers
NM_001306084.2
p.R347Q
c.1040G>A
2 papers
NM_001306084.2
p.K761N
c.2283G>T
2 papers
NM_001306084.2
p.T763A
c.2287A>G
2 papers
NM_001306084.2
p.E883fs
c.2647_2648fs
2 papers
NM_001306084.2
p.F1106delFs
c.3317delT
2 papers
NM_001306084.2
p.S1318*
c.3953C>A
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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."