Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57
Variant:p.R891Q

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
2 papers
NM_001378189.1
p.R891Q
c.2672G>A
Surrounding Variants
1 paper
NM_001378189.1
p.G897D
c.2690G>A
1 paper
NM_001378189.1
p.I874L
c.2620A>C
4 papers
NM_001378189.1
p.I863T
c.2588T>C
1 paper
NM_001378189.1
p.Q852*
c.2554C>T
1 paper
NM_001378189.1
p.E832K
c.2494G>A
1 paper
NM_001378189.1
p.T819N
c.2456C>A
1 paper
NM_001378189.1
p.D817N
c.2449G>A
1 paper
NM_001378189.1
p.E808G
c.2423A>G
1 paper
NM_001378189.1
p.L800F
c.2398C>T
2 papers
NM_001378189.1
p.R913*
c.2737C>T
1 paper
NM_001378189.1
p.D759N
c.2275G>A
1 paper
NM_001378189.1
p.R752R
c.2254A>C
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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."