Varaico: Literature-Extracted Genetic Variants

Gene:RSPH3
Variant:p.R369W

RSPH3

36 papers

RefSeq Summary

The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cil...

Pfam Domains

Radial_spoke_3aa 103–328UCSCRadial spoke protein 3

Gene Aliases

HGNC Name

radial spoke head 3

HGNC Previous Symbol

RSHL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_031924.8
p.R369W
c.1105C>T
Surrounding Variants
1 paper
NM_031924.8
p.R369L
c.1106G>T
1 paper
NM_031924.8
p.L371L
c.1111C>T
1 paper
NM_031924.8
p.E362*
c.1084G>T
1 paper
NM_031924.8
p.G376D
c.1127G>A
1 paper
NM_031924.8
p.Q379R
c.1136A>G
1 paper
NM_031924.8
p.A357V
c.1070C>T
1 paper
NM_031924.8
p.L355L
c.1063C>T
1 paper
NM_031924.8
p.E353G
c.1058A>G
1 paper
NM_031924.8
p.E390K
c.1168G>A
1 paper
NM_031924.8
p.E398E
c.1194A>G
1 paper
NM_031924.8
p.G332R
c.994G>A
1 paper
NM_031924.8
p.E299Q
c.895G>C
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