Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57
Variant:p.R677Q

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.R677Q
c.2030G>A
Surrounding Variants
1 paper
NM_001378189.1
p.R677P
c.2030G>C
1 paper
NM_001378189.1
p.R673Q
c.2018G>A
1 paper
NM_001378189.1
p.T692K
c.2075C>A
1 paper
NM_001378189.1
p.D659N
c.1975G>A
1 paper
NM_001378189.1
p.D649G
c.1946A>G
1 paper
NM_001378189.1
p.K643_M644Splc
c.1930-666G>A
1 paper
NM_001378189.1
p.V700I
c.2098G>A
1 paper
NM_001378189.1
p.R720Q
c.2159G>A
1 paper
NM_001378189.1
p.T746I
c.2237C>T
1 paper
NM_001378189.1
p.R619H
c.1856G>A
1 paper
NM_001378189.1
p.R619C
c.1855C>T
1 paper
NM_001378189.1
p.S614L
c.1841C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."