Varaico: Literature-Extracted Genetic Variants

Gene:CFAP58
Variant:p.Q469H

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.Q469H
c.1407G>T
Surrounding Variants
1 paper
NM_001008723.2
p.Q469H
c.1407G>C
1 paper
NM_001008723.2
p.I477delFs
c.1429delA
1 paper
NM_001008723.2
p.Q488*
c.1462C>T
3 papers
NM_001008723.2
p.S496T
c.1486T>A
2 papers
NM_001008723.2
p.E507V
c.1520A>T
1 paper
NM_001008723.2
p.Q509H
c.1527G>C
1 paper
NM_001008723.2
p.Q509H
c.1527G>T
1 paper
NM_001008723.2
p.K520K
c.1560G>A
1 paper
NM_001008723.2
p.H544_Q548delFs
c.1632_1644del13
1 paper
NM_001008723.2
p.L545fs
c.1633_1634fs
1 paper
NM_001008723.2
p.Q547R
c.1640A>G
1 paper
NM_001008723.2
p.K552*
c.1654A>T
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