Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.M1I

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.M1I
c.3G>A
Surrounding Variants
1 paper
NM_178452.6
p.M1I
c.3G>C
1 paper
NM_178452.6
p.M1I
c.3G>T
1 paper
NM_178452.6
p.H2_P3insT
c.4_8ins3
7 papers
NM_178452.6
p.M1insFs
c.2dupT
1 paper
NM_178452.6
p.M1insFs
c.1_2dupAT
1 paper
NM_178452.6
p.M1_A13delFs
c.1_37del37
1 paper
NM_178452.6
p.G11delFs
c.33delT
1 paper
NM_178452.6
p.A19V
c.56C>T
1 paper
NM_178452.6
p.A28V
c.83C>T
1 paper
NM_178452.6
p.G29delFs
c.86delG
1 paper
NM_178452.6
p.G38S
c.112G>A
1 paper
NM_178452.6
p.G38delFs
c.114delC
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