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

7 papers

NM_021254.4

p.Y245*

c.735C>G

Surrounding Variants

6 papers

NM_021254.4

p.Y245*

c.735C>A

1 paper

NM_021254.4

p.R248delFs

c.743_744delTC

1 paper

NM_021254.4

p.S236R

c.708T>G

1 paper

NM_021254.4

p.S236R

c.708T>A

1 paper

NM_021254.4

p.S236R

c.706A>C

1 paper

NM_021254.4

p.Q225*

c.673C>T

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.Y264_L265delFs

c.792_795del4

1 paper

NM_021254.4

p.P268L

c.803C>T

1 paper

NM_021254.4

p.K210delFs

c.630delC

1 paper

NM_021254.4

p.V208M

c.622G>A