Varaico: Literature-Extracted Genetic Variants

Gene:CFAP54
Variant:p.N740_L741delFs

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.N740_L741delFs
c.2220_2223del4
Surrounding Variants
1 paper
NM_001306084.2
p.D733E
c.2199C>A
1 paper
NM_001306084.2
p.D733E
c.2199C>G
2 papers
NM_001306084.2
p.K761N
c.2283G>T
1 paper
NM_001306084.2
p.R762_T763delFs
c.2286_2287delTA
2 papers
NM_001306084.2
p.T763A
c.2287A>G
1 paper
NM_001306084.2
p.N777D
c.2329A>G
1 paper
NM_001306084.2
p.P707delFs
c.2120delC
1 paper
NM_001306084.2
p.E698delFs
c.2092delG
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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."