Varaico: Literature-Extracted Genetic Variants

Gene:CFAP418
Variant:p.R52Splc

CFAP418

101 papers

RefSeq Summary

This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin...

Pfam Domains

RMPaa 60–207UCSCRetinal Maintenance

Gene Aliases

HGNC Name

cilia and flagella associated protein 418

HGNC Previous Symbol

C8orf37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_177965.4
p.R52Splc
c.156-2A>G
Surrounding Variants
1 paper
NM_177965.4
p.R52*
c.154A>T
2 papers
NM_177965.4
p.R52Splc
c.156-1G>T
1 paper
NM_177965.4
p.K58*
c.172A>T
1 paper
NM_177965.4
p.E60_D61del1
c.180_182delTCT
1 paper
NM_177965.4
p.D62E
c.186T>A
1 paper
NM_177965.4
p.L63delFs
c.189delA
1 paper
NM_177965.4
p.N75fs
c.223_224fs
1 paper
NM_177965.4
p.N75_D77delFs
c.225_229del5
5 papers
NM_177965.4
p.S81_K82Splc
c.243+2T>C
1 paper
NM_177965.4
p.S81_K82Splc
c.243+3A>C
5 papers
NM_177965.4
p.S81_K82Splc
c.244-2A>C
1 paper
NM_177965.4
p.K86fs
c.256_257fs
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