Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.E465D

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.E465D
c.1395G>T
Surrounding Variants
1 paper
NM_178452.6
p.E465D
c.1395G>C
2 papers
NM_178452.6
p.Q462P
c.1385A>C
1 paper
NM_178452.6
p.Q462*
c.1384C>T
1 paper
NM_178452.6
p.A470G
c.1409C>G
1 paper
NM_178452.6
p.E471_L473del3
c.1411_1418del9
2 papers
NM_178452.6
p.L473delFs
c.1417delC
1 paper
NM_178452.6
p.P452T
c.1354C>A
1 paper
NM_178452.6
p.P451fs
c.1351_1352fs
2 papers
NM_178452.6
p.P451fs
c.1351_1352fs
1 paper
NM_178452.6
p.V481G
c.1442T>G
1 paper
NM_178452.6
p.P449P
c.1347C>A
10 papers
NM_178452.6
p.P450insFs
c.1349dupC
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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."