Varaico: Literature-Extracted Genetic Variants

Gene:CFAP54
Variant:p.K618*

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
3 papers
NM_001306084.2
p.K618*
c.1852A>T
Surrounding Variants
1 paper
NM_001306084.2
p.I621insFs
c.1862dupT
1 paper
NM_001306084.2
p.W614*
c.1842G>A
1 paper
NM_001306084.2
p.W614*
c.1841G>A
1 paper
NM_001306084.2
p.K603_E604insG
c.1807_1811ins3
1 paper
NM_001306084.2
p.T640I
c.1919C>T
1 paper
NM_001306084.2
p.H655R
c.1964A>G
1 paper
NM_001306084.2
p.R673W
c.2017C>T
1 paper
NM_001306084.2
p.G685*
c.2053G>T
1 paper
NM_001306084.2
p.K687insFs
c.2061dupA
1 paper
NM_001306084.2
p.L692L
c.2074C>T
1 paper
NM_001306084.2
p.Q597Q
c.1791G>A
1 paper
NM_001306084.2
p.C593Y
c.1778G>A
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