Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57
Variant:p.E318D

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.E318D
c.954G>T
Surrounding Variants
1 paper
NM_001378189.1
p.E318D
c.954G>C
1 paper
NM_001378189.1
p.R317H
c.950G>A
2 papers
NM_001378189.1
p.I322M
c.966C>G
1 paper
NM_001378189.1
p.E312*
c.934G>T
1 paper
NM_001378189.1
p.A299D
c.896C>A
1 paper
NM_001378189.1
p.S267Y
c.800C>A
1 paper
NM_001378189.1
p.L265F
c.793C>T
1 paper
NM_001378189.1
p.R323_I324Splc
c.970-9T>C
1 paper
NM_001378189.1
p.S336S
c.1008T>A
4 papers
NM_001378189.1
p.C345S
c.1033T>A
4 papers
NM_001378189.1
p.C345S
c.1034G>C
1 paper
NM_001378189.1
p.C345*
c.1035C>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."