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

3 papers

NM_012472.6

p.C87R

c.259T>C

Surrounding Variants

1 paper

NM_012472.6

p.C87Y

c.260G>A

1 paper

NM_012472.6

p.C87W

c.261T>G

1 paper

NM_012472.6

p.L93P

c.278T>C

1 paper

NM_012472.6

p.L95L

c.283C>T

4 papers

NM_012472.6

p.I100T

c.299T>C

1 paper

NM_012472.6

p.L103_S104insFs

c.309_310insCT

1 paper

NM_012472.6

p.L103_S104ins1

c.309_310insCCT

1 paper

NM_012472.6

p.L103_S104insFs

c.309_310ins4

1 paper

NM_012472.6

p.S104insFs

c.310_311insC

1 paper

NM_012472.6

p.L109S

c.326T>C

1 paper

NM_012472.6

p.H111Y

c.331C>T

1 paper

NM_012472.6

p.L118_F119delFs

c.354_355delAG