Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.S62R

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.S62R
c.184A>C
Surrounding Variants
1 paper
NM_001010892.3
p.S62R
c.186C>A
1 paper
NM_001010892.3
p.S62R
c.186C>G
1 paper
NM_001010892.3
p.S65_A75del11
c.193_224del33
1 paper
NM_001010892.3
p.Q64Q
c.192G>A
2 papers
NM_001010892.3
p.S65_A75delFs
c.194_224del31
1 paper
NM_001010892.3
p.R66_A67Fs
c.198_200delinsCCFs
1 paper
NM_001010892.3
p.R56P
c.167G>C
4 papers
NM_001010892.3
p.R56fs
c.166_167fs
4 papers
NM_001010892.3
p.R56insFs
c.166dupC
1 paper
NM_001010892.3
p.L71_G72insFs
c.213_214insG
1 paper
NM_001010892.3
p.G73fs
c.217_218fs
1 paper
NM_001010892.3
p.K46insFs
c.138dupG
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