Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.E634V

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.E634V
c.1901A>T
Surrounding Variants
3 papers
NM_178452.6
p.L633S
c.1898T>C
2 papers
NM_178452.6
p.R636*
c.1906C>T
1 paper
NM_178452.6
p.R636Q
c.1907G>A
1 paper
NM_178452.6
p.R644*
c.1930A>T
1 paper
NM_178452.6
p.L646fs
c.1936_1937fs
2 papers
NM_178452.6
p.L646delFs
c.1937delT
1 paper
NM_178452.6
p.R618Q
c.1853G>A
3 papers
NM_178452.6
p.E653K
c.1957G>A
1 paper
NM_178452.6
p.D654N
c.1960G>A
1 paper
NM_178452.6
p.S614L
c.1841C>T
1 paper
NM_178452.6
p.S610A
c.1828T>G
1 paper
NM_178452.6
p.L659V
c.1975C>G
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