Varaico: Literature-Extracted Genetic Variants

Gene:RSPH3
Variant:p.M1R

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.M1R
c.2T>G
Surrounding Variants
1 paper
NM_031924.8
p.M1insFs
c.2dupT
1 paper
NM_031924.8
p.S3S
c.9A>G
1 paper
NM_031924.8
p.Y16_T17delFs
c.48_49delTG
1 paper
NM_031924.8
p.N48_I49del1
c.143_145delTGT
1 paper
NM_031924.8
p.N48_I49del2
c.142_146del6
1 paper
NM_031924.8
p.N59S
c.176A>G
1 paper
NM_031924.8
p.L68_L69Splc
c.204+28C>T
1 paper
NM_031924.8
p.L68_L69Splc
c.204+60G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."