Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57
Variant:p.S591L

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.S591L
c.1772C>T
Surrounding Variants
1 paper
NM_001378189.1
p.E589A
c.1766A>C
5 papers
NM_001378189.1
p.R588*
c.1762C>T
1 paper
NM_001378189.1
p.S603S
c.1809G>A
1 paper
NM_001378189.1
p.S614_I618del5
c.1840_1853del15
1 paper
NM_001378189.1
p.S614L
c.1841C>T
1 paper
NM_001378189.1
p.R619C
c.1855C>T
1 paper
NM_001378189.1
p.R619H
c.1856G>A
1 paper
NM_001378189.1
p.A582V
c.1745C>T
1 paper
NM_001378189.1
p.I568T
c.1703T>C
1 paper
NM_001378189.1
p.S529S
c.1587T>A
2 papers
NM_001378189.1
p.D523Y
c.1567G>T
1 paper
NM_001378189.1
p.K643_M644Splc
c.1930-666G>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."