Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57
Variant:p.I84T

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.I84T
c.251T>C
Surrounding Variants
1 paper
NM_001378189.1
p.S91C
c.272C>G
1 paper
NM_001378189.1
p.R97H
c.290G>A
1 paper
NM_001378189.1
p.N102D
c.304A>G
1 paper
NM_001378189.1
p.L63S
c.188T>C
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.F110C
c.329T>G
1 paper
NM_001378189.1
p.Q58*
c.172C>T
1 paper
NM_001378189.1
p.A114V
c.341C>T
2 papers
NM_001378189.1
p.T126M
c.377C>T
1 paper
NM_001378189.1
p.R148K
c.443G>A
1 paper
NM_001378189.1
p.T151S
c.451A>T
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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."