Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.Q144*

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
8 papers
NM_001010892.3
p.Q144*
c.430C>T
Surrounding Variants
1 paper
NM_001010892.3
p.G147E
c.440G>A
1 paper
NM_001010892.3
p.T149S
c.445A>T
1 paper
NM_001010892.3
p.T149S
c.446C>G
1 paper
NM_001010892.3
p.Q154_K157delFs
c.462_469del8
10 papers
NM_001010892.3
p.Q154*
c.460C>T
1 paper
NM_001010892.3
p.K134_R135delFs
c.402_403delAA
1 paper
NM_001010892.3
p.P156S
c.466C>T
1 paper
NM_001010892.3
p.P158S
c.472C>T
1 paper
NM_001010892.3
p.D126_P127delFs
c.378_379delTC
1 paper
NM_001010892.3
p.D126H
c.376G>C
1 paper
NM_001010892.3
p.P123P
c.369T>A
1 paper
NM_001010892.3
p.P123fs
c.367_368fs
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