Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.S54_D55Fs

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.S54_D55Fs
c.162_164delinsGFs
Surrounding Variants
1 paper
NM_178452.6
p.Q61K
c.181C>A
1 paper
NM_178452.6
p.Q62H
c.186G>T
1 paper
NM_178452.6
p.K63*
c.187A>T
1 paper
NM_178452.6
p.E42Splc
c.125-2A>C
1 paper
NM_178452.6
p.R81delFs
c.241_242delAG
1 paper
NM_178452.6
p.E82delFs
c.245delA
1 paper
NM_178452.6
p.R84W
c.250C>T
1 paper
NM_178452.6
p.R87Splc
c.261-3C>G
1 paper
NM_178452.6
p.M88K
c.263T>A
1 paper
NM_178452.6
p.T89A
c.265A>G
1 paper
NM_178452.6
p.S91I
c.272G>T
1 paper
NM_178452.6
p.L93insFs
c.277dupC
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