Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57
Variant:p.N241D

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
7 papers
NM_001378189.1
p.N241D
c.721A>G
Surrounding Variants
1 paper
NM_001378189.1
p.T240S
c.719C>G
1 paper
NM_001378189.1
p.T240S
c.718A>T
1 paper
NM_001378189.1
p.W205fs
c.613_614fs
1 paper
NM_001378189.1
p.W205_V206delFs
c.614_618del5
1 paper
NM_001378189.1
p.H203D
c.607C>G
1 paper
NM_001378189.1
p.A202A
c.606T>C
1 paper
NM_001378189.1
p.Q198R
c.593A>G
1 paper
NM_001378189.1
p.K188R
c.563A>G
1 paper
NM_001378189.1
p.T186I
c.557C>T
1 paper
NM_001378189.1
p.A183A
c.549T>C
1 paper
NM_001378189.1
p.A183S
c.547G>T
1 paper
NM_001378189.1
p.N166D
c.496A>G
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