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

1–12 of 115 variants

13 papers

NM_012472.6

p.D146H

c.436G>C

9 papers

NM_012472.6

p.W210delFs

c.630delC

5 papers

NM_012472.6

p.Q192insFs

c.576dupA

5 papers

NM_012472.6

p.K200delFs

c.598_599delTT

4 papers

NM_012472.6

p.S27delFs

c.79_80delGA

4 papers

NM_012472.6

p.E60Splc

c.179-1G>A

4 papers

NM_012472.6

p.N61K

c.183T>G

4 papers

NM_012472.6

p.A74P

c.220G>C

4 papers

NM_012472.6

p.I100T

c.299T>C

4 papers

NM_012472.6

p.R180*

c.538C>T

4 papers

NM_012472.6

p.Q192*

c.574C>T

4 papers

NM_012472.6

p.E193fs

c.577_578fs