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

1 paper

NM_021254.4

p.K76R

c.227A>G

Surrounding Variants

6 papers

NM_021254.4

p.D67N

c.199G>A

1 paper

NM_021254.4

p.S86S

c.258C>T

1 paper

NM_021254.4

p.A89T

c.265G>A

1 paper

NM_021254.4

p.K92fs

c.274_275fs

3 papers

NM_021254.4

p.R98*

c.292C>T

1 paper

NM_021254.4

p.G101V

c.302G>T

1 paper

NM_021254.4

p.Q102L

c.305A>T

1 paper

NM_021254.4

p.R33W

c.97C>T

1 paper

NM_021254.4

p.Q30L

c.89A>T

3 papers

NM_021254.4

p.E26A

c.77A>C

2 papers

NM_021254.4

p.L3Q

c.8T>A

1 paper

NM_021254.4

p.V2_L3insT

c.4_8ins3