Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.S243I

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.S243I
c.728G>T
Surrounding Variants
1 paper
NM_178452.6
p.P245L
c.734C>T
1 paper
NM_178452.6
p.L241V
c.721C>G
1 paper
NM_178452.6
p.S239N
c.716G>A
1 paper
NM_178452.6
p.S239fs
c.715_716fs
3 papers
NM_178452.6
p.S239delFs
c.715delA
1 paper
NM_178452.6
p.L232V
c.694C>G
1 paper
NM_178452.6
p.K231Q
c.691A>C
1 paper
NM_178452.6
p.H229Y
c.685C>T
3 papers
NM_178452.6
p.S228L
c.683C>T
2 papers
NM_178452.6
p.C223G
c.667T>G
2 papers
NM_178452.6
p.C219R
c.655T>C
1 paper
NM_178452.6
p.Q217L
c.650A>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."