Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.Q566_N567Splc

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
10 papers
NM_178452.6
p.Q566_N567Splc
c.1698+1G>A
Surrounding Variants
1 paper
NM_178452.6
p.Q566_N567Splc
c.1698+7G>T
1 paper
NM_178452.6
p.K561N
c.1683A>C
1 paper
NM_178452.6
p.K561N
c.1683A>T
1 paper
NM_178452.6
p.D555V
c.1664A>T
1 paper
NM_178452.6
p.D548_D549Splc
c.1645-131C>G
2 papers
NM_178452.6
p.D584N
c.1750G>A
2 papers
NM_178452.6
p.T590M
c.1769C>T
1 paper
NM_178452.6
p.E596Q
c.1786G>C
1 paper
NM_178452.6
p.N597H
c.1789A>C
3 papers
NM_178452.6
p.L598L
c.1794C>G
1 paper
NM_178452.6
p.S610A
c.1828T>G
1 paper
NM_178452.6
p.S614L
c.1841C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."