Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.G436R

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.G436R
c.1306G>C
Surrounding Variants
1 paper
NM_178452.6
p.G436R
c.1306G>A
3 papers
NM_178452.6
p.D435N
c.1303G>A
1 paper
NM_178452.6
p.G434R
c.1300G>A
1 paper
NM_178452.6
p.G434R
c.1300G>C
1 paper
NM_178452.6
p.G434Fs
c.1300delinsGTFs
1 paper
NM_178452.6
p.G434fs
c.1300_1301fs
2 papers
NM_178452.6
p.E432D
c.1296G>C
2 papers
NM_178452.6
p.E432D
c.1296G>T
3 papers
NM_178452.6
p.G434_T441delFs
c.1300_1322del23
1 paper
NM_178452.6
p.E432K
c.1294G>A
10 papers
NM_178452.6
p.P450insFs
c.1349dupC
1 paper
NM_178452.6
p.L423V
c.1267C>G
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