Varaico: Literature-Extracted Genetic Variants

Gene:CFAP54
Variant:p.Q597Q

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.Q597Q
c.1791G>A
Surrounding Variants
1 paper
NM_001306084.2
p.C593Y
c.1778G>A
1 paper
NM_001306084.2
p.V592delFs
c.1774_1775delGT
1 paper
NM_001306084.2
p.I581V
c.1741A>G
1 paper
NM_001306084.2
p.D569insFs
c.1706dupA
1 paper
NM_001306084.2
p.Q556R
c.1667A>G
1 paper
NM_001306084.2
p.F547insFs
c.1641dupT
1 paper
NM_001306084.2
p.L530V
c.1588C>G
1 paper
NM_001306084.2
p.Q513_R514Splc
c.1540-4C>T
1 paper
NM_001306084.2
p.Y495delFs
c.1484delA
1 paper
NM_001306084.2
p.Y495fs
c.1483_1484fs
1 paper
NM_001306084.2
p.L469V
c.1405C>G
1 paper
NM_001306084.2
p.A458S
c.1372G>T
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