Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57

CFAP57

112 papers

RefSeq Summary

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family ...

Pfam Domains

Beta-prop_EML_2aa 392–667UCSCEchinoderm microtubule-associated protein second beta-propeller

Gene Aliases

HGNC Name

cilia and flagella associated protein 57

HGNC Previous Symbol

WDR65

Papers
RefSeq ID
Protein change
DNA change
1–12 of 129 variants
7 papers
NM_001378189.1
p.N241D
c.721A>G
5 papers
NM_001378189.1
p.R588*
c.1762C>T
4 papers
NM_001378189.1
p.C345S
c.1033T>A
4 papers
NM_001378189.1
p.C345S
c.1034G>C
4 papers
NM_001378189.1
p.I863T
c.2588T>C
2 papers
NM_001378189.1
p.K40R
c.119A>G
2 papers
NM_001378189.1
p.T126M
c.377C>T
2 papers
NM_001378189.1
p.I322M
c.966C>G
2 papers
NM_001378189.1
p.I392I
c.1176C>T
2 papers
NM_001378189.1
p.G513R
c.1537G>A
2 papers
NM_001378189.1
p.G513R
c.1537G>C
2 papers
NM_001378189.1
p.D523Y
c.1567G>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."