Varaico: Literature-Extracted Genetic Variants

Gene:CFAP58
Variant:p.K440delFs

CFAP58

79 papers

Pfam Domains

CFAP58_CCaa 366–671UCSCCFAP58 central coiled coil

Gene Aliases

HGNC Name

cilia and flagella associated protein 58

HGNC Previous Symbols

C10orf80; CCDC147

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001008723.2
p.K440delFs
c.1320delG
Surrounding Variants
1 paper
NM_001008723.2
p.K440fs
c.1318_1319fs
1 paper
NM_001008723.2
p.E441*
c.1321G>T
1 paper
NM_001008723.2
p.E441D
c.1323G>C
1 paper
NM_001008723.2
p.E441D
c.1323G>T
1 paper
NM_001008723.2
p.I435M
c.1305C>G
1 paper
NM_001008723.2
p.N447K
c.1341C>A
1 paper
NM_001008723.2
p.Q429*
c.1285C>T
2 papers
NM_001008723.2
p.Q454*
c.1360C>T
1 paper
NM_001008723.2
p.D426N
c.1276G>A
1 paper
NM_001008723.2
p.K455M
c.1364A>T
1 paper
NM_001008723.2
p.N416S
c.1247A>G
1 paper
NM_001008723.2
p.Q412delFs
c.1235delA
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