Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.E353*

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.E353*
c.1057G>T
Surrounding Variants
1 paper
NM_178452.6
p.D351Y
c.1051G>T
2 papers
NM_178452.6
p.D350H
c.1048G>C
1 paper
NM_178452.6
p.E345Q
c.1033G>C
1 paper
NM_178452.6
p.G344Splc
c.1031-1G>A
1 paper
NM_178452.6
p.G344Splc
c.1031-2A>G
2 papers
NM_178452.6
p.G367R
c.1099G>A
2 papers
NM_178452.6
p.G367R
c.1099G>C
1 paper
NM_178452.6
p.E376K
c.1126G>A
1 paper
NM_178452.6
p.V379F
c.1135G>T
1 paper
NM_178452.6
p.P391L
c.1172C>T
2 papers
NM_178452.6
p.K393R
c.1178A>G
1 paper
NM_178452.6
p.E398V
c.1193A>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."