Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.K459N

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.K459N
c.1377G>C
Surrounding Variants
1 paper
NM_001010892.3
p.K459N
c.1377G>T
1 paper
NM_001010892.3
p.F462_P469del8
c.1384_1406del24
10 papers
NM_001010892.3
p.G464E
c.1391G>A
5 papers
NM_001010892.3
p.R465*
c.1393C>T
1 paper
NM_001010892.3
p.R465Q
c.1394G>A
1 paper
NM_001010892.3
p.D467N
c.1399G>A
1 paper
NM_001010892.3
p.D467E
c.1401T>A
1 paper
NM_001010892.3
p.D467E
c.1401T>G
3 papers
NM_001010892.3
p.Q451*
c.1351C>T
1 paper
NM_001010892.3
p.A450T
c.1348G>A
1 paper
NM_001010892.3
p.I470M
c.1410C>G
1 paper
NM_001010892.3
p.G478E
c.1433G>A
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