Varaico: Literature-Extracted Genetic Variants

Gene:CFAP54
Variant:p.Q48_W49del1

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.Q48_W49del1
c.143_145delAGT
Surrounding Variants
1 paper
NM_001306084.2
p.Q48*
c.142C>T
2 papers
NM_001306084.2
p.S34L
c.101C>T
1 paper
NM_001306084.2
p.F61L
c.183T>G
1 paper
NM_001306084.2
p.P64P
c.192G>A
1 paper
NM_001306084.2
p.K68E
c.202A>G
1 paper
NM_001306084.2
p.P70T
c.208C>A
1 paper
NM_001306084.2
p.L71F
c.211C>T
1 paper
NM_001306084.2
p.K77E
c.229A>G
1 paper
NM_001306084.2
p.Q80*
c.238C>T
1 paper
NM_001306084.2
p.Q80Q
c.240G>A
1 paper
NM_001306084.2
p.K89delFs
c.266delA
1 paper
NM_001306084.2
p.K89fs
c.265_266fs
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