Varaico: Literature-Extracted Genetic Variants

Gene:CFAP58

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
1–12 of 129 variants
4 papers
NM_001008723.2
p.R619W
c.1855C>T
3 papers
NM_001008723.2
p.S496T
c.1486T>A
3 papers
NM_001008723.2
p.R696C
c.2086C>T
2 papers
NM_001008723.2
p.R59H
c.176G>A
2 papers
NM_001008723.2
p.S108L
c.323C>T
2 papers
NM_001008723.2
p.A177S
c.529G>T
2 papers
NM_001008723.2
p.E222K
c.664G>A
2 papers
NM_001008723.2
p.Q454*
c.1360C>T
2 papers
NM_001008723.2
p.E507V
c.1520A>T
2 papers
NM_001008723.2
p.Q566*
c.1696C>T
2 papers
NM_001008723.2
p.Y628C
c.1883A>G
2 papers
NM_001008723.2
p.A674S
c.2020G>T
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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."