Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.R336H

RSPH4A

132 papers

RefSeq Summary

This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. R...

Pfam Domains

Radial_spokeaa 214–687UCSCRadial spokehead-like protein

Gene Aliases

HGNC Name

radial spoke head component 4A

HGNC Previous Symbol

RSHL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001010892.3
p.R336H
c.1007G>A
Surrounding Variants
1 paper
NM_001010892.3
p.Y335_R336del2
c.1003_1007del6
1 paper
NM_001010892.3
p.T347_H348del2
c.1039_1043del6
1 paper
NM_001010892.3
p.H348L
c.1043A>T
1 paper
NM_001010892.3
p.I350_Q351insG
c.1048_1052ins3
1 paper
NM_001010892.3
p.Y321fs
c.961_962fs
1 paper
NM_001010892.3
p.C353S
c.1057T>A
1 paper
NM_001010892.3
p.Y321delFs
c.961delT
3 papers
NM_001010892.3
p.W356*
c.1067G>A
4 papers
NM_001010892.3
p.W356*
c.1068G>A
1 paper
NM_001010892.3
p.G357R
c.1069G>A
1 paper
NM_001010892.3
p.G357R
c.1069G>C
1 paper
NM_001010892.3
p.G357insFs
c.1069_1070insAC
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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."