Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1

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
1–12 of 208 variants
10 papers
NM_178452.6
p.P450insFs
c.1349dupC
10 papers
NM_178452.6
p.Q566_N567Splc
c.1698+1G>A
7 papers
NM_178452.6
p.M1insFs
c.2dupT
7 papers
NM_178452.6
p.P495delFs
c.1484delC
6 papers
NM_178452.6
p.Q94delFs
c.281delA
4 papers
NM_178452.6
p.R121C
c.361C>T
4 papers
NM_178452.6
p.R271*
c.811C>T
4 papers
NM_178452.6
p.Q307E
c.919C>G
4 papers
NM_178452.6
p.P495fs
c.1483_1484fs
3 papers
NM_178452.6
p.K95fs
c.283_284fs
3 papers
NM_178452.6
p.E170insFs
c.508dupG
3 papers
NM_178452.6
p.L175R
c.524T>G
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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."