Varaico: Literature-Extracted Genetic Variants

Gene:CFAP58
Variant:p.L597L

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.L597L
c.1791G>A
Surrounding Variants
1 paper
NM_001008723.2
p.L603_D604insG
c.1807_1811ins3
1 paper
NM_001008723.2
p.A592delFs
c.1774_1775delGC
1 paper
NM_001008723.2
p.R583*
c.1747A>T
1 paper
NM_001008723.2
p.E579E
c.1737A>G
1 paper
NM_001008723.2
p.Q605_V606Splc
c.1815+47G>A
2 papers
NM_001008723.2
p.Q566*
c.1696C>T
4 papers
NM_001008723.2
p.R619W
c.1855C>T
1 paper
NM_001008723.2
p.R620H
c.1859G>A
1 paper
NM_001008723.2
p.N621insFs
c.1862dupA
2 papers
NM_001008723.2
p.Y628C
c.1883A>G
1 paper
NM_001008723.2
p.S636Y
c.1907C>A
1 paper
NM_001008723.2
p.E658D
c.1974G>C
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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."