Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57
Variant:p.V493M

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
Selected Variant
1 paper
NM_001378189.1
p.V493M
c.1477G>A
Surrounding Variants
1 paper
NM_001378189.1
p.N492T
c.1475A>C
1 paper
NM_001378189.1
p.T498I
c.1493C>T
1 paper
NM_001378189.1
p.T500R
c.1499C>G
1 paper
NM_001378189.1
p.H484Y
c.1450C>T
1 paper
NM_001378189.1
p.G482R
c.1444G>A
1 paper
NM_001378189.1
p.G482R
c.1444G>C
1 paper
NM_001378189.1
p.F479S
c.1436T>C
2 papers
NM_001378189.1
p.G513R
c.1537G>A
2 papers
NM_001378189.1
p.G513R
c.1537G>C
1 paper
NM_001378189.1
p.E476D
c.1428G>C
1 paper
NM_001378189.1
p.E476D
c.1428G>T
1 paper
NM_001378189.1
p.V447A
c.1340T>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."