Varaico: Literature-Extracted Genetic Variants

Gene:RSPH9
Variant:p.G224Splc

RSPH9

91 papers

RefSeq Summary

This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splic...

Gene Aliases

HGNC Name

radial spoke head component 9

HGNC Previous Symbols

MRPS18AL1; C6orf206

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_152732.5
p.G224Splc
c.670+2T>C
Surrounding Variants
1 paper
NM_152732.5
p.E218K
c.652G>A
1 paper
NM_152732.5
p.S210delFs
c.630delC
3 papers
NM_152732.5
p.K204*
c.610A>T
1 paper
NM_152732.5
p.E203G
c.608A>G
1 paper
NM_152732.5
p.E203K
c.607G>A
1 paper
NM_152732.5
p.T200fs
c.598_599fs
1 paper
NM_152732.5
p.K199insFs
c.596dupA
1 paper
NM_152732.5
p.E195delFs
c.583delG
1 paper
NM_152732.5
p.P193fs
c.577_578fs
1 paper
NM_152732.5
p.P193delFs
c.578delC
1 paper
NM_152732.5
p.G175Splc
c.524-1G>C
2 papers
NM_001193341.2
p.R156W
c.466C>T
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