Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF1
Variant:p.P495delFs

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
7 papers
NM_178452.6
p.P495delFs
c.1484delC
Surrounding Variants
2 papers
NM_178452.6
p.L494fs
c.1480_1481fs
1 paper
NM_178452.6
p.P495fs
c.1483_1484fs
4 papers
NM_178452.6
p.P495fs
c.1483_1484fs
1 paper
NM_178452.6
p.R488G
c.1462C>G
3 papers
NM_178452.6
p.R488*
c.1462C>T
1 paper
NM_178452.6
p.P501L
c.1502C>T
1 paper
NM_178452.6
p.P502L
c.1505C>T
1 paper
NM_178452.6
p.G483E
c.1448G>A
1 paper
NM_178452.6
p.V481G
c.1442T>G
1 paper
NM_178452.6
p.E510Splc
c.1528+2T>C
2 papers
NM_178452.6
p.L473delFs
c.1417delC
1 paper
NM_178452.6
p.E471_L473del3
c.1411_1418del9
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