Varaico: Literature-Extracted Genetic Variants

Gene:CFAP58
Variant:p.I127delFs

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.I127delFs
c.381delA
Surrounding Variants
1 paper
NM_001008723.2
p.E126Q
c.376G>C
1 paper
NM_001008723.2
p.E126_I127delFs
c.378_379delAA
1 paper
NM_001008723.2
p.D143_H145del3
c.427_434del9
1 paper
NM_001008723.2
p.K112delFs
c.335_336delAA
1 paper
NM_001008723.2
p.D111Y
c.331G>T
1 paper
NM_001008723.2
p.Y110C
c.329A>G
2 papers
NM_001008723.2
p.S108L
c.323C>T
1 paper
NM_001008723.2
p.W103*
c.309G>A
1 paper
NM_001008723.2
p.W103*
c.308G>A
1 paper
NM_001008723.2
p.A102D
c.305C>A
1 paper
NM_001008723.2
p.F154L
c.460T>C
1 paper
NM_001008723.2
p.F154L
c.462C>A
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