Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.P410_E411delFs

DNAAF1

159 papers

RefSeq Summary

The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush bor...

Pfam Domains

LRR_9aa 172–306UCSCLeucine-rich repeat
LRR_9aa 172–306UCSCLeucine-rich repeat

Gene Aliases

HGNC Name

dynein axonemal assembly factor 1

HGNC Previous Symbol

LRRC50

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178452.6
p.P410_E411delFs
c.1228_1232del5
Surrounding Variants
1 paper
NM_178452.6
p.P410fs
c.1228_1229fs
3 papers
NM_178452.6
p.E402V
c.1205A>T
1 paper
NM_178452.6
p.P400Fs
c.1198_1199delinsGFs
1 paper
NM_178452.6
p.P400fs
c.1198_1199fs
1 paper
NM_178452.6
p.P399Q
c.1196C>A
2 papers
NM_178452.6
p.P400insFs
c.1198_1199ins4
1 paper
NM_178452.6
p.E398V
c.1193A>T
1 paper
NM_178452.6
p.L421V
c.1261C>G
1 paper
NM_178452.6
p.L423V
c.1267C>G
2 papers
NM_178452.6
p.K393R
c.1178A>G
1 paper
NM_178452.6
p.P391L
c.1172C>T
1 paper
NM_178452.6
p.E432K
c.1294G>A
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