Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.M88K

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.M88K
c.263T>A
Surrounding Variants
1 paper
NM_178452.6
p.T89A
c.265A>G
1 paper
NM_178452.6
p.R87Splc
c.261-3C>G
1 paper
NM_178452.6
p.S91I
c.272G>T
1 paper
NM_178452.6
p.L93insFs
c.277dupC
2 papers
NM_178452.6
p.Q94fs
c.280_281fs
6 papers
NM_178452.6
p.Q94delFs
c.281delA
3 papers
NM_178452.6
p.K95fs
c.283_284fs
1 paper
NM_178452.6
p.N109S
c.326A>G
1 paper
NM_178452.6
p.N109K
c.327T>G
2 papers
NM_178452.6
p.D110insFs
c.329dupA
1 paper
NM_178452.6
p.R84W
c.250C>T
1 paper
NM_178452.6
p.E82delFs
c.245delA
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."