Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57
Variant:p.V5L

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.V5L
c.13G>C
Surrounding Variants
1 paper
NM_001378189.1
p.G13C
c.37G>T
1 paper
NM_001378189.1
p.G13D
c.38G>A
1 paper
NM_001378189.1
p.R15Q
c.44G>A
2 papers
NM_001378189.1
p.K40R
c.119A>G
1 paper
NM_001378189.1
p.G53Splc
c.158-1794G>A
1 paper
NM_001378189.1
p.Q58*
c.172C>T
1 paper
NM_001378189.1
p.M60L
c.178A>C
1 paper
NM_001378189.1
p.M60L
c.178A>T
1 paper
NM_001378189.1
p.L63S
c.188T>C
1 paper
NM_001378189.1
p.I84T
c.251T>C
1 paper
NM_001378189.1
p.S91C
c.272C>G
1 paper
NM_001378189.1
p.R97H
c.290G>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."