Varaico: Literature-Extracted Genetic Variants

DNAAF11

106 papers

RefSeq Summary

The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CI...

Pfam Domains

CS_DNAAF11_Caa 261–380UCSCDynein axonemal assembly factor 11-like, CS domain

Gene Aliases

HGNC Name

dynein axonemal assembly factor 11

HGNC Alias Symbols

TSLRP; LRTP; CILD19; tilB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012472.6

p.D195delFs

c.583delC

Surrounding Variants

5 papers

NM_012472.6

p.Q192insFs

c.576dupA

4 papers

NM_012472.6

p.E193fs

c.577_578fs

4 papers

NM_012472.6

p.Q192*

c.574C>T

4 papers

NM_012472.6

p.K200fs

c.598_599fs

5 papers

NM_012472.6

p.K200delFs

c.598_599delTT

2 papers

NM_012472.6

p.Q188*

c.562C>T

1 paper

NM_012472.6

p.N203N

c.609C>T

1 paper

NM_012472.6

p.A204T

c.610G>A

1 paper

NM_012472.6

p.K184E

c.550A>G

2 papers

NM_012472.6

p.W210fs

c.628_629fs

4 papers

NM_012472.6

p.R180*

c.538C>T

9 papers

NM_012472.6

p.W210delFs

c.630delC