Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57
Variant:p.E428V

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.E428V
c.1283A>T
Surrounding Variants
1 paper
NM_001378189.1
p.H443H
c.1329C>T
1 paper
NM_001378189.1
p.V447A
c.1340T>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.T420K
c.1259C>A
1 paper
NM_001378189.1
p.R414C
c.1240C>T
1 paper
NM_001378189.1
p.D410E
c.1230T>A
1 paper
NM_001378189.1
p.T393S
c.1178C>G
1 paper
NM_001378189.1
p.T393S
c.1177A>T
2 papers
NM_001378189.1
p.I392I
c.1176C>T
1 paper
NM_001378189.1
p.F479S
c.1436T>C
1 paper
NM_001378189.1
p.G482R
c.1444G>A
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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."