Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.Y264*

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
2 papers
NM_178452.6
p.Y264*
c.792C>A
Surrounding Variants
1 paper
NM_178452.6
p.Y264*
c.792C>G
4 papers
NM_178452.6
p.R271*
c.811C>T
1 paper
NM_178452.6
p.L272L
c.814C>T
1 paper
NM_178452.6
p.P256L
c.767C>T
1 paper
NM_178452.6
p.N255K
c.765C>G
1 paper
NM_178452.6
p.G254V
c.761G>T
1 paper
NM_178452.6
p.L252F
c.756G>C
1 paper
NM_178452.6
p.L252F
c.756G>T
1 paper
NM_178452.6
p.L250_N251insFs
c.748_751dup4
1 paper
NM_178452.6
p.D287N
c.859G>A
1 paper
NM_178452.6
p.P245L
c.734C>T
1 paper
NM_178452.6
p.S243I
c.728G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."