Varaico: Literature-Extracted Genetic Variants

Gene:CFAP54
Variant:p.L268F

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.L268F
c.804A>C
Surrounding Variants
1 paper
NM_001306084.2
p.L268F
c.804A>T
1 paper
NM_001306084.2
p.E269_L271delFs
c.805_812del8
1 paper
NM_001306084.2
p.A267fs
c.799_800fs
1 paper
NM_001306084.2
p.P283R
c.848C>G
2 papers
NM_001306084.2
p.R293H
c.878G>A
1 paper
NM_001306084.2
p.A294T
c.880G>A
1 paper
NM_001306084.2
p.C303delFs
c.907delT
1 paper
NM_001306084.2
p.A309D
c.926C>A
2 papers
NM_001306084.2
p.G313R
c.937G>A
2 papers
NM_001306084.2
p.G313R
c.937G>C
3 papers
NM_001306084.2
p.R319C
c.955C>T
1 paper
NM_001306084.2
p.L330L
c.988C>T
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