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.G57_K58Fs

c.169_173delinsTCCCAATFs

Surrounding Variants

2 papers

NM_012472.6

p.K58delins

c.173delinsTCCCAAT

2 papers

NM_012472.6

p.G57fs

c.169_170fs

1 paper

NM_012472.6

p.L51P

c.152T>C

1 paper

NM_012472.6

p.W42*

c.126G>A

1 paper

NM_012472.6

p.W42*

c.125G>A

1 paper

NM_012472.6

p.E34K

c.100G>A

4 papers

NM_012472.6

p.S27delFs

c.79_80delGA

3 papers

NM_012472.6

p.S27fs

c.79_80fs

3 papers

NM_012472.6

p.S22insFs

c.64dupT

3 papers

NM_012472.6

p.S22fs

c.64_65fs

1 paper

NM_012472.6

p.I20I

c.60T>A

1 paper

NM_012472.6

p.V19D

c.56T>A