Varaico: Literature-Extracted Genetic Variants

Gene:CFAP57
Variant:p.T352delFs

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.T352delFs
c.1055_1056delCT
Surrounding Variants
1 paper
NM_001378189.1
p.L353fs
c.1057_1058fs
1 paper
NM_001378189.1
p.P348L
c.1043C>T
1 paper
NM_001378189.1
p.C345*
c.1035C>A
4 papers
NM_001378189.1
p.C345S
c.1034G>C
4 papers
NM_001378189.1
p.C345S
c.1033T>A
1 paper
NM_001378189.1
p.S336S
c.1008T>A
1 paper
NM_001378189.1
p.S373delFs
c.1119delC
1 paper
NM_001378189.1
p.K374E
c.1120A>G
1 paper
NM_001378189.1
p.R323_I324Splc
c.970-9T>C
2 papers
NM_001378189.1
p.I322M
c.966C>G
1 paper
NM_001378189.1
p.E318D
c.954G>C
1 paper
NM_001378189.1
p.E318D
c.954G>T
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