Varaico: Literature-Extracted Genetic Variants

Gene:CFAP54
Variant:p.F1106delFs

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
2 papers
NM_001306084.2
p.F1106delFs
c.3317delT
Surrounding Variants
1 paper
NM_001306084.2
p.L1105V
c.3313C>G
1 paper
NM_001306084.2
p.F1106fs
c.3316_3317fs
1 paper
NM_001306084.2
p.I1110fs
c.3328_3329fs
1 paper
NM_001306084.2
p.I1110delFs
c.3329delT
1 paper
NM_001306084.2
p.T1080delFs
c.3240delT
1 paper
NM_001306084.2
p.V1150L
c.3448G>C
1 paper
NM_001306084.2
p.V1168A
c.3503T>C
1 paper
NM_001306084.2
p.Q1069_R1070insAC
c.3205_3209ins6
1 paper
NM_001306084.2
p.A1195A
c.3585G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."