Varaico: Literature-Extracted Genetic Variants

Gene:RSPH3
Variant:p.L267F

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
1 paper
NM_031924.8
p.L267F
c.799C>T
Surrounding Variants
1 paper
NM_031924.8
p.S273G
c.817A>G
1 paper
NM_031924.8
p.S273I
c.818G>T
1 paper
NM_031924.8
p.R256R
c.768A>G
1 paper
NM_031924.8
p.D287Splc
c.859+1G>T
1 paper
NM_031924.8
p.S213N
c.638G>A
1 paper
NM_031924.8
p.Q204*
c.610C>T
1 paper
NM_031924.8
p.L200P
c.599T>C
1 paper
NM_031924.8
p.M297T
c.890T>C
1 paper
NM_031924.8
p.E299Q
c.895G>C
1 paper
NM_031924.8
p.P143_P145del3
c.427_434del9
1 paper
NM_031924.8
p.E128V
c.383A>T
1 paper
NM_031924.8
p.E116Splc
c.347-23G>A
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