Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.R312fs

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.R312fs
c.934_935fs
Surrounding Variants
1 paper
NM_178452.6
p.R312_R314delFs
c.934_940del7
2 papers
NM_178452.6
p.R314W
c.940C>T
2 papers
NM_178452.6
p.K315*
c.943A>T
4 papers
NM_178452.6
p.Q307E
c.919C>G
1 paper
NM_178452.6
p.D319Y
c.955G>T
1 paper
NM_178452.6
p.A301D
c.902C>A
1 paper
NM_178452.6
p.A295D
c.884C>A
3 papers
NM_178452.6
p.W294*
c.882G>A
3 papers
NM_178452.6
p.W294*
c.881G>A
1 paper
NM_178452.6
p.A331E
c.992C>A
2 papers
NM_178452.6
p.A291insFs
c.871dupG
1 paper
NM_178452.6
p.K335*
c.1003A>T
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