Varaico: Literature-Extracted Genetic Variants

CFAP298

62 papers

RefSeq Summary

This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough tra...

Pfam Domains

CFAP298aa 189–227UCSCCilia- and flagella-associated protein 298

CFAP298aa 189–285UCSCCilia- and flagella-associated protein 298

Gene Aliases

HGNC Name

cilia and flagella associated protein 298

HGNC Previous Symbols

C21orf48; C21orf59

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_021254.4

p.P163S

c.487C>T

Surrounding Variants

1 paper

NM_021254.4

p.I164V

c.490A>G

1 paper

NM_021254.4

p.N170S

c.509A>G

1 paper

NM_021254.4

p.D173Y

c.517G>T

1 paper

NM_021254.4

p.S175L

c.524C>T

1 paper

NM_021254.4

p.S175*

c.524C>A

1 paper

NM_021254.4

p.Q178_A179Splc

c.534+4C>T

2 papers

NM_021254.4

p.D141V

c.422A>T

1 paper

NM_021254.4

p.D141G

c.422A>G

1 paper

NM_021254.4

p.V132_C133insFs

c.396_397dupCT

1 paper

NM_021254.4

p.A130A

c.390C>T

1 paper

NM_021254.4

p.Q178_A179Splc

c.535-94A>C

2 papers

NM_021254.4

p.E186_A189insFs

c.557_566dup10