Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.Q341fs

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
2 papers
NM_178452.6
p.Q341fs
c.1021_1022fs
Surrounding Variants
1 paper
NM_178452.6
p.Q341fs
c.1021_1022fs
2 papers
NM_178452.6
p.Q341delFs
c.1022_1023delAA
1 paper
NM_178452.6
p.R338T
c.1013G>C
1 paper
NM_178452.6
p.S340delFs
c.1018_1019delAG
1 paper
NM_178452.6
p.E339_S340delFs
c.1016_1019del4
1 paper
NM_178452.6
p.K335*
c.1003A>T
1 paper
NM_178452.6
p.A331E
c.992C>A
1 paper
NM_178452.6
p.D319Y
c.955G>T
2 papers
NM_178452.6
p.K315*
c.943A>T
2 papers
NM_178452.6
p.R314W
c.940C>T
1 paper
NM_178452.6
p.R312fs
c.934_935fs
1 paper
NM_178452.6
p.R312_R314delFs
c.934_940del7
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."