Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.R132fs

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.R132fs
c.394_395fs
Surrounding Variants
1 paper
NM_178452.6
p.R132delFs
c.394delC
2 papers
NM_178452.6
p.E126fs
c.376_377fs
2 papers
NM_178452.6
p.E126delFs
c.376delG
1 paper
NM_178452.6
p.N124S
c.371A>G
4 papers
NM_178452.6
p.R121C
c.361C>T
1 paper
NM_178452.6
p.G118Splc
c.353-5G>A
1 paper
NM_178452.6
p.A149V
c.446C>T
2 papers
NM_178452.6
p.E152A
c.455A>C
1 paper
NM_178452.6
p.R154C
c.460C>T
1 paper
NM_178452.6
p.R154H
c.461G>A
1 paper
NM_178452.6
p.C155W
c.465C>G
1 paper
NM_178452.6
p.F157_L158del1
c.471_473delCTT
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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."