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

1–12 of 46 variants

7 papers

NM_021254.4

p.Y245*

c.735C>G

6 papers

NM_021254.4

p.D67N

c.199G>A

6 papers

NM_021254.4

p.Y245*

c.735C>A

3 papers

NM_021254.4

p.E26A

c.77A>C

3 papers

NM_021254.4

p.R98*

c.292C>T

2 papers

NM_021254.4

p.L3Q

c.8T>A

2 papers

NM_021254.4

p.D141V

c.422A>T

2 papers

NM_021254.4

p.P163S

c.487C>T

2 papers

NM_021254.4

p.E186_A189insFs

c.557_566dup10

2 papers

NM_021254.4

p.Y264*

c.792T>G

2 papers

NM_021254.4

p.Y264*

c.792T>A

1 paper

NM_021254.4

p.M1V

c.1A>G