Varaico: Literature-Extracted Genetic Variants

Gene:CFAP54
Variant:p.R1020Q

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
Selected Variant
1 paper
NM_001306084.2
p.R1020Q
c.3059G>A
Surrounding Variants
1 paper
NM_001306084.2
p.F1022L
c.3064T>C
1 paper
NM_001306084.2
p.F1022L
c.3066C>A
1 paper
NM_001306084.2
p.F1022L
c.3066C>G
1 paper
NM_001306084.2
p.P1013S
c.3037C>T
1 paper
NM_001306084.2
p.A963_I964Splc
c.2889+5G>A
1 paper
NM_001306084.2
p.L912delFs
c.2734delC
1 paper
NM_001306084.2
p.P909S
c.2725C>T
1 paper
NM_001306084.2
p.P908L
c.2723C>T
1 paper
NM_001306084.2
p.Q886*
c.2656C>T
2 papers
NM_001306084.2
p.E883fs
c.2647_2648fs
1 paper
NM_001306084.2
p.Q880H
c.2640G>C
1 paper
NM_001306084.2
p.Q880H
c.2640G>T
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