Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.K174E

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.K174E
c.520A>G
Surrounding Variants
1 paper
NM_001010892.3
p.P158S
c.472C>T
1 paper
NM_001010892.3
p.P156S
c.466C>T
10 papers
NM_001010892.3
p.Q154*
c.460C>T
1 paper
NM_001010892.3
p.Q154_K157delFs
c.462_469del8
1 paper
NM_001010892.3
p.P195delFs
c.583delC
2 papers
NM_001010892.3
p.P195R
c.584C>G
1 paper
NM_001010892.3
p.T149S
c.446C>G
1 paper
NM_001010892.3
p.T149S
c.445A>T
1 paper
NM_001010892.3
p.G147E
c.440G>A
1 paper
NM_001010892.3
p.E201_V202insFs
c.603_604insG
1 paper
NM_001010892.3
p.P204_S205insFs
c.610_613dup4
1 paper
NM_001010892.3
p.P204T
c.610C>A
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