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

4 papers

NM_012472.6

p.N61K

c.183T>G

Surrounding Variants

3 papers

NM_012472.6

p.N61K

c.183T>A

4 papers

NM_012472.6

p.E60Splc

c.179-1G>A

1 paper

NM_012472.6

p.K66_K67Fs

c.198_200delinsCCFs

4 papers

NM_012472.6

p.A74P

c.220G>C

1 paper

NM_012472.6

p.N77insFs

c.230dupA

2 papers

NM_012472.6

p.I78M

c.234T>G

1 paper

NM_012472.6

p.K80K

c.240A>G

2 papers

NM_012472.6

p.E79_K80del2

c.235_239del6

1 paper

NM_012472.6

p.K80_I81delFs

c.239_243del5

1 paper

NM_012472.6

p.E82delFs

c.245delT

1 paper

NM_012472.6

p.G86Splc

c.256+78C>T

2 papers

NM_012472.6

p.K58delins

c.173delinsTCCCAAT