Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.P123delFs

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.P123delFs
c.367delC
Surrounding Variants
1 paper
NM_001010892.3
p.P123fs
c.367_368fs
1 paper
NM_001010892.3
p.P123P
c.369T>A
1 paper
NM_001010892.3
p.A120insFs
c.358_359insG
1 paper
NM_001010892.3
p.D126H
c.376G>C
1 paper
NM_001010892.3
p.D126_P127delFs
c.378_379delTC
2 papers
NM_001010892.3
p.P118S
c.352C>T
3 papers
NM_001010892.3
p.P118fs
c.352_353fs
1 paper
NM_001010892.3
p.I117insFs
c.350_351insG
3 papers
NM_001010892.3
p.I117insFs
c.351dupT
1 paper
NM_001010892.3
p.V116fs
c.346_347fs
1 paper
NM_001010892.3
p.V116delFs
c.347_348delTG
1 paper
NM_001010892.3
p.R112delFs
c.335_336delGG
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